Canonical Allele Identifier: CA784579111
Gene:

Linked Data

dbSNP Id: rs1220424795

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.102499758A>C , CM000666.2:g.102499758A>C GRCh38
NC_000004.11:g.103420915A>C , CM000666.1:g.103420915A>C GRCh37
NC_000004.10:g.103639947A>C NCBI36
NG_050628.1:g.3430A>C

Transcript Alleles

HGVS Amino-acid Change
XM_011532467.1:c.643+1491T>G XP_011530769.1:n.643+1491T>G
NR_136202.1:n.48+2681T>G