Canonical Allele Identifier: CA337622080
Gene:

Linked Data

dbSNP Id: rs17842387

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.8556048A>G , CM000686.2:g.8556048A>G GRCh38
NC_000024.9:g.8424089A>G , CM000686.1:g.8424089A>G GRCh37
NC_000024.8:g.8484089A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000624593.1:c.*23-6253T>C ENSP00000485106.1:n.*23-6253T>C