Canonical Allele Identifier: CA337622075
Gene:

Linked Data

dbSNP Id: rs993998685

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.8555912C>G , CM000686.2:g.8555912C>G GRCh38
NC_000024.9:g.8423953C>G , CM000686.1:g.8423953C>G GRCh37
NC_000024.8:g.8483953C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000624593.1:c.*23-6117G>C ENSP00000485106.1:n.*23-6117G>C