Canonical Allele Identifier: CA784579127
Gene:

Linked Data

dbSNP Id: rs1416193970

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.102499789G>A , CM000666.2:g.102499789G>A GRCh38
NC_000004.11:g.103420946G>A , CM000666.1:g.103420946G>A GRCh37
NC_000004.10:g.103639978G>A NCBI36
NG_050628.1:g.3461G>A

Transcript Alleles

HGVS Amino-acid Change
XM_011532467.1:c.643+1460C>T XP_011530769.1:n.643+1460C>T
NR_136202.1:n.48+2650C>T