Canonical Allele Identifier: CA1816081261
Gene:

Linked Data

dbSNP Id: rs1586448227

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.122395973T>C , CM000670.2:g.122395973T>C GRCh38
NC_000008.10:g.123408212T>C , CM000670.1:g.123408212T>C GRCh37
NC_000008.9:g.123477393T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_928599.1:n.152+3199A>G
XR_928599.3:n.152+3199A>G