Canonical Allele Identifier: CA784579201
Gene:

Linked Data

dbSNP Id: rs1214290888

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.102499941C>T , CM000666.2:g.102499941C>T GRCh38
NC_000004.11:g.103421098C>T , CM000666.1:g.103421098C>T GRCh37
NC_000004.10:g.103640130C>T NCBI36
NG_050628.1:g.3613C>T

Transcript Alleles

HGVS Amino-acid Change
XM_011532467.1:c.643+1308G>A XP_011530769.1:n.643+1308G>A
NR_136202.1:n.48+2498G>A