Canonical Allele Identifier: CA784578966
Gene:

Linked Data

dbSNP Id: rs1283426104

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.102499635C>T , CM000666.2:g.102499635C>T GRCh38
NC_000004.11:g.103420792C>T , CM000666.1:g.103420792C>T GRCh37
NC_000004.10:g.103639824C>T NCBI36
NG_050628.1:g.3307C>T

Transcript Alleles

HGVS Amino-acid change
XM_011532467.1:c.643+1614G>A XP_011530769.1:n.643+1614G>A
NR_136202.1:n.48+2804G>A