Canonical Allele Identifier: CA784579233
Gene:

Linked Data

dbSNP Id: rs1188825748

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.102500016T>C , CM000666.2:g.102500016T>C GRCh38
NC_000004.11:g.103421173T>C , CM000666.1:g.103421173T>C GRCh37
NC_000004.10:g.103640205T>C NCBI36
NG_050628.1:g.3688T>C

Transcript Alleles

HGVS Amino-acid Change
XM_011532467.1:c.643+1233A>G XP_011530769.1:n.643+1233A>G
NR_136202.1:n.48+2423A>G