Canonical Allele Identifier: CA1818149108
Gene:

Linked Data

dbSNP Id: rs1814932541

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.126999224T>G , CM000670.2:g.126999224T>G GRCh38
NC_000008.10:g.128011469T>G , CM000670.1:g.128011469T>G GRCh37
NC_000008.9:g.128080651T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001746076.2:n.1301-7331T>G