Canonical Allele Identifier: CA1817437253
Gene:

Linked Data

dbSNP Id: rs1563833217

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.125474108T>C , CM000670.2:g.125474108T>C GRCh38
NC_000008.10:g.126486350T>C , CM000670.1:g.126486350T>C GRCh37
NC_000008.9:g.126555532T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_928628.1:n.256+794T>C