Canonical Allele Identifier: CA13739140
Gene:

Linked Data

dbSNP Id: rs1482426

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.84127492A>G , CM000674.2:g.84127492A>G GRCh38
NC_000012.11:g.84521271A>G , CM000674.1:g.84521271A>G GRCh37
NC_000012.10:g.83045402A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_001749234.1:n.127+58974T>C
XR_001749235.1:n.127+58974T>C