Canonical Allele Identifier: CA1481405865
Gene:

Linked Data

dbSNP Id: rs1738892174

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.102499938C>T , CM000666.2:g.102499938C>T GRCh38
NC_000004.11:g.103421095C>T , CM000666.1:g.103421095C>T GRCh37
NC_000004.10:g.103640127C>T NCBI36
NG_050628.1:g.3610C>T

Transcript Alleles

HGVS Amino-acid Change
XM_011532467.1:c.643+1311G>A XP_011530769.1:n.643+1311G>A
NR_136202.1:n.48+2501G>A