gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.64525117 (NFE)
Genomes Max Group AF
0.64525117 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.95301079A>C , CM000669.2:g.95301079A>C | GRCh38 |
| NC_000007.13:g.94930391A>C , CM000669.1:g.94930391A>C | GRCh37 |
| NC_000007.12:g.94768327A>C | NCBI36 |
| NG_008779.1:g.28494T>G | |
| NG_008779.2:g.28628T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222381.8:c.909+1126T>G MANE Select | ENSP00000222381.3:n.909+1126T>G | |
| ENST00000222381.7:c.909+1126T>G | ENSP00000222381.3:n.909+1126T>G | |
| ENST00000433729.1:c.*634+1126T>G | ENSP00000407359.1:n.*634+1126T>G | |
| ENST00000462594.1:n.199+1126T>G | ||
| NM_000446.5:c.909+1126T>G | NP_000437.3:n.909+1126T>G | |
| NM_000446.6:c.909+1126T>G | NP_000437.3:n.909+1126T>G | |
| NM_000446.7:c.909+1126T>G MANE Select | NP_000437.3:n.909+1126T>G |