Canonical Allele Identifier: CA242665972
Gene:

Linked Data

dbSNP Id: rs906478992

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102501350G>C , CM000674.2:g.102501350G>C GRCh38
NC_000012.11:g.102895128G>C , CM000674.1:g.102895128G>C GRCh37
NC_000012.10:g.101419258G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001749289.1:n.1952+17462G>C