Canonical Allele Identifier: CA2492742090
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.19429543T>G , CM000664.2:g.19429543T>G GRCh38
NC_000002.11:g.19629304T>G , CM000664.1:g.19629304T>G GRCh37
NC_000002.10:g.19492785T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_939779.1:n.495+20468A>C
XR_001739314.1:n.406+20468A>C
XR_939779.2:n.406+20468A>C