Canonical Allele Identifier: CA337589494
Gene:

Linked Data

dbSNP Id: rs112111306
gnomAD v3: Y-7483512-T-C
gnomAD v4: Y-7483512-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.7483512T>C , CM000686.2:g.7483512T>C GRCh38
NC_000024.9:g.7351553T>C , CM000686.1:g.7351553T>C GRCh37
NC_000024.8:g.7411553T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_001756055.1:n.202-17497T>C