Canonical Allele Identifier: CA337623251
Gene:

Linked Data

dbSNP Id: rs9306848

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.8606148C>A , CM000686.2:g.8606148C>A GRCh38
NC_000024.9:g.8474189C>A , CM000686.1:g.8474189C>A GRCh37
NC_000024.8:g.8534189C>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000624507.1:n.53-1117G>T ENSP00000485522.1:n.53-1117G>T
ENST00000624593.1:c.92+16704G>T ENSP00000485106.1:n.92+16704G>T