Canonical Allele Identifier:
CA13386201
Gene:
Linked Data
dbSNP Id:
rs11228583
gnomAD v2:
11-69009114-G-T
gnomAD v3:
11-69241647-G-T
gnomAD v4:
11-69241647-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.69241647G>T , CM000673.2:g.69241647G>T | GRCh38 |
| NC_000011.9:g.69009114G>T , CM000673.1:g.69009114G>T | GRCh37 |
| NC_000011.8:g.68765690G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| XR_950267.1:n.645+5757G>T |