Canonical Allele Identifier: CA337592421
Gene:

Linked Data

dbSNP Id: rs17316597
gnomAD v3: Y-7680874-G-A
gnomAD v4: Y-7680874-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.7680874G>A , CM000686.2:g.7680874G>A GRCh38
NC_000024.9:g.7548915G>A , CM000686.1:g.7548915G>A GRCh37
NC_000024.8:g.7608915G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000439805.1:n.616+10G>A