Canonical Allele Identifier: CA1318169385
Gene:

Linked Data

dbSNP Id: rs576141548

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.195006936T>C , CM000664.2:g.195006936T>C GRCh38
NC_000002.11:g.195871660T>C , CM000664.1:g.195871660T>C GRCh37
NC_000002.10:g.195579905T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001739836.1:n.553+52499A>G