Canonical Allele Identifier:
CA11215051
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.5039427 (AFR)
Genomes Max Group AF
0.5039427 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.120551912C>T , CM000664.2:g.120551912C>T | GRCh38 |
| NC_000002.11:g.121309488C>T , CM000664.1:g.121309488C>T | GRCh37 |
| NC_000002.10:g.121025958C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_923262.1:n.1463G>A | ||
| XR_001739680.2:n.1471G>A | ||
| XR_001739681.2:n.2104G>A | ||
| XR_001739682.1:n.1471G>A | ||
| XR_002959417.1:n.1471G>A |