Canonical Allele Identifier: CA221092948
Gene:

Linked Data

dbSNP Id: rs11035577

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.39887112T>C , CM000673.2:g.39887112T>C GRCh38
NC_000011.9:g.39908662T>C , CM000673.1:g.39908662T>C GRCh37
NC_000011.8:g.39865238T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_001748194.1:n.58+76049A>G
XR_001748195.1:n.58+76049A>G