Canonical Allele Identifier: CA1112576900
Gene:

Linked Data

dbSNP Id: rs1802343045
gnomAD v3: 8-33808393-G-A
gnomAD v4: 8-33808393-G-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.33808393G>A , CM000670.2:g.33808393G>A GRCh38
NC_000008.10:g.33665911G>A , CM000670.1:g.33665911G>A GRCh37
NC_000008.9:g.33785453G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_949659.1:n.240+11957G>A
XR_002956701.1:n.240+11957G>A
Search 100 bp 5'
Search 100 bp 3'