Canonical Allele Identifier: CA16273983
Gene:

Linked Data

dbSNP Id: rs9320913
gnomAD v2: 6-98584733-C-A
gnomAD v3: 6-98136857-C-A
gnomAD v4: 6-98136857-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.98136857C>A , CM000668.2:g.98136857C>A GRCh38
NC_000006.11:g.98584733C>A , CM000668.1:g.98584733C>A GRCh37
NC_000006.10:g.98691454C>A NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_942809.1:n.456+37587C>A