Original source

Variants (including SNPs and indels) imported from dbSNP (release 138) | View in dbSNP

Alleles
G/C | Ancestral: G | Ambiguity code: S
Location

Chromosome 14:51382651 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM981686

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 6331, NM_002863.3:c.1131C>G

This variation has 8 HGVS names - click the plus to show

14:g.51382651G>C
ENST00000216392.7:c.1131C>G
ENSP00000216392.7:p.Asn377Lys
ENST00000532462.1:c.1131C>G
ENSP00000431657.1:p.Asn377Lys
ENST00000528757.2:n.8C>G
ENST00000544180.2:c.1029C>G
ENSP00000443787.1:p.Asn343Lys

Variation displays