Canonical Allele Identifier: CA337588730
Gene:

Linked Data

dbSNP Id: rs16980749
gnomAD v3: Y-7464091-C-T
gnomAD v4: Y-7464091-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.7464091C>T , CM000686.2:g.7464091C>T GRCh38
NC_000024.9:g.7332132C>T , CM000686.1:g.7332132C>T GRCh37
NC_000024.8:g.7392132C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_001756055.1:n.201+5364C>T