Canonical Allele Identifier: CA14742662
Gene:

Identifiers and link-outs to other resources

dbSNP Id: rs163913

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6722624C>T , CM000681.2:g.6722624C>T GRCh38
NC_000019.9:g.6722635C>T , CM000681.1:g.6722635C>T GRCh37
NC_000019.8:g.6673635C>T NCBI36
NG_009557.1:g.3028G>A , LRG_27:g.3028G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000600744.1:c.-50+817G>A ENSP00000472044.1:p.=