Canonical Allele Identifier: CA337622083
Gene:

Linked Data

dbSNP Id: rs923383108
gnomAD v3: Y-8556219-G-A
gnomAD v4: Y-8556219-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.8556219G>A , CM000686.2:g.8556219G>A GRCh38
NC_000024.9:g.8424260G>A , CM000686.1:g.8424260G>A GRCh37
NC_000024.8:g.8484260G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000624593.1:c.*23-6424C>T ENSP00000485106.1:n.*23-6424C>T