Original source

Variants (including SNPs and indels) imported from dbSNP (mapped to GRCh38) (release 138) | [View in dbSNP]

Alleles
T/A/C | Ancestral: T | Ambiguity code: H
Location

Chromosome 16:3243407 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM025267, CM970913

Most severe consequence
Evidence status

Clinical significance

This variation has 3 synonyms - click the plus to show

This variation has 42 HGVS names - click the plus to show

Variant allele A
16:g.3243407T>A
ENST00000621655.1:c.*381A>T
ENST00000538326.3:c.*705A>T
ENST00000536980.3:c.*356A>T
ENST00000339854.6:c.1540A>T
ENSP00000339639.4:p.Met514Leu
ENST00000570511.3:c.*564A>T
ENST00000541159.3:c.*284A>T
ENST00000574583.3:c.*564A>T
ENST00000572244.3:c.*464A>T
ENST00000537682.3:c.*356A>T
ENST00000576315.3:c.*597A>T
ENST00000219596.3:c.2080A>T
ENSP00000219596.1:p.Met694Leu
ENST00000536379.3:c.1447A>T
ENSP00000445079.1:p.Met483Leu
ENST00000542898.3:c.*356A>T
ENST00000539145.3:c.*713A>T
LRG_190:g.18221A>T
LRG_190t1:c.2080A>T
LRG_190p1:p.Met694Leu

Variant allele C
16:g.3243407T>C
ENST00000621655.1:c.*381A>G
ENST00000538326.3:c.*705A>G
ENST00000536980.3:c.*356A>G
ENST00000339854.6:c.1540A>G
ENSP00000339639.4:p.Met514Val
ENST00000570511.3:c.*564A>G
ENST00000541159.3:c.*284A>G
ENST00000574583.3:c.*564A>G
ENST00000572244.3:c.*464A>G
ENST00000537682.3:c.*356A>G
ENST00000576315.3:c.*597A>G
ENST00000219596.3:c.2080A>G
ENSP00000219596.1:p.Met694Val
ENST00000536379.3:c.1447A>G
ENSP00000445079.1:p.Met483Val
ENST00000542898.3:c.*356A>G
ENST00000539145.3:c.*713A>G
LRG_190:g.18221A>G
LRG_190t1:c.2080A>G
LRG_190p1:p.Met694Val

Genotyping chips

This variation has assays on: HumanCoreExome-12

Variation displays