Canonical Allele Identifier: CA2493232087
Gene:

Linked Data

dbSNP Id: rs1468035381

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.20485696C>A , CM000664.2:g.20485696C>A GRCh38
NC_000002.11:g.20685457C>A , CM000664.1:g.20685457C>A GRCh37
NC_000002.10:g.20548938C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NR_157978.1:n.530+3042G>T