Canonical Allele Identifier: CA2273295114
Gene:

Linked Data

dbSNP Id: rs1990193

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.70831948C>G , CM000679.2:g.70831948C>G GRCh38
NC_000017.10:g.68828089C>G , CM000679.1:g.68828089C>G GRCh37
NC_000017.9:g.66339684C>G NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_934956.1:n.62+3266G>C
XR_934956.2:n.114+3266G>C