Original source

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

Alleles
A/T | Ancestral: A | Ambiguity code: W
Location

Chromosome 7:100633515 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM011819

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB NM_003227.3:c.515T>A, 12813

This variation has 10 HGVS names - click the plus to show

7:g.100633515A>T
ENST00000475011.1:n.44T>A
ENST00000465294.4:n.520T>A
ENST00000431692.4:c.515T>A
ENSP00000413905.1:p.Met172Lys
ENST00000476304.4:n.136T>A
ENST00000462107.1:c.515T>A
ENSP00000420525.1:p.Met172Lys
ENST00000223051.6:c.515T>A
ENSP00000223051.3:p.Met172Lys

About this variant

This variant overlaps 12 transcripts, is associated with 2 phenotypes and is mentioned in 1 citation.

Variation displays