Canonical Allele Identifier: CA1481405854
Gene:

Linked Data

dbSNP Id: rs1738891510

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.102499921T>G , CM000666.2:g.102499921T>G GRCh38
NC_000004.11:g.103421078T>G , CM000666.1:g.103421078T>G GRCh37
NC_000004.10:g.103640110T>G NCBI36
NG_050628.1:g.3593T>G

Transcript Alleles

HGVS Amino-acid Change
XM_011532467.1:c.643+1328A>C XP_011530769.1:n.643+1328A>C
NR_136202.1:n.48+2518A>C