Canonical Allele Identifier: CA337626015
Gene:

Linked Data

dbSNP Id: rs3913290

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.8734477C>T , CM000686.2:g.8734477C>T GRCh38
NC_000024.9:g.8602518C>T , CM000686.1:g.8602518C>T GRCh37
NC_000024.8:g.8662518C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000623558.1:c.197-5353C>T ENSP00000485446.1:n.197-5353C>T
ENST00000624237.1:c.64-7578C>T ENSP00000485137.1:n.64-7578C>T
ENST00000624593.1:c.-57+14239G>A ENSP00000485106.1:n.-57+14239G>A