Canonical Allele Identifier: CA1817437370
Gene:

Linked Data

dbSNP Id: rs1815192319

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.125474252T>C , CM000670.2:g.125474252T>C GRCh38
NC_000008.10:g.126486494T>C , CM000670.1:g.126486494T>C GRCh37
NC_000008.9:g.126555676T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_928628.1:n.256+938T>C