Canonical Allele Identifier: CA185690295
Gene:

Linked Data

dbSNP Id: rs921138034

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.127012517T>C , CM000670.2:g.127012517T>C GRCh38
NC_000008.10:g.128024762T>C , CM000670.1:g.128024762T>C GRCh37
NC_000008.9:g.128093944T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001746076.2:n.1364+5899T>C