Canonical Allele Identifier: CA1250829359
Gene:

Linked Data

dbSNP Id: rs1283940361

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.52722399A>C , CM000664.2:g.52722399A>C GRCh38
NC_000002.11:g.52949537A>C , CM000664.1:g.52949537A>C GRCh37
NC_000002.10:g.52803041A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_002959384.1:n.858T>G