Canonical Allele Identifier: CA784578968
Gene:

Linked Data

dbSNP Id: rs1228844187

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.102499642A>G , CM000666.2:g.102499642A>G GRCh38
NC_000004.11:g.103420799A>G , CM000666.1:g.103420799A>G GRCh37
NC_000004.10:g.103639831A>G NCBI36
NG_050628.1:g.3314A>G

Transcript Alleles

HGVS Amino-acid change
XM_011532467.1:c.643+1607T>C XP_011530769.1:n.643+1607T>C
NR_136202.1:n.48+2797T>C