Canonical Allele Identifier: CA1817441778
Gene:

Linked Data

dbSNP Id: rs1812775514

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.125478428T>C , CM000670.2:g.125478428T>C GRCh38
NC_000008.10:g.126490670T>C , CM000670.1:g.126490670T>C GRCh37
NC_000008.9:g.126559852T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_928628.1:n.256+5114T>C