gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.47312251 (NFE)
Genomes Max Group AF
0.47339662 (NFE)
Exomes Max Group AF
0.46806122 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.20110836T>G , CM000684.2:g.20110836T>G | GRCh38 |
| NC_000022.10:g.20098359T>G , CM000684.1:g.20098359T>G | GRCh37 |
| NC_000022.9:g.18478359T>G | NCBI36 |
| NG_022931.1:g.35605T>G | |
| NG_022931.2:g.35605T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000407755.2:c.*728T>G | ENSP00000384726.1:n.*728T>G | |
| ENST00000457069.2:c.*728T>G | ENSP00000409625.2:n.*728T>G | |
| ENST00000704820.1:c.*728T>G | ENSP00000516052.1:n.*728T>G | |
| ENST00000704821.1:c.*728T>G | ENSP00000516053.1:n.*728T>G | |
| ENST00000351989.8:c.*728T>G MANE Select | ENSP00000263209.3:n.*728T>G | |
| ENST00000351989.7:c.*728T>G | ENSP00000263209.3:n.*728T>G | |
| ENST00000383024.6:c.*728T>G | ENSP00000372488.2:n.*728T>G | |
| ENST00000407755.1:c.*728T>G | ENSP00000384726.1:n.*728T>G | |
| ENST00000475941.1:n.2244T>G | ||
| ENST00000495826.5:n.3659T>G | ||
| ENST00000498171.5:n.2620T>G | ||
| NM_001190326.1:c.*728T>G | NP_001177255.1:n.*728T>G | |
| NM_022720.6:c.*728T>G | NP_073557.3:n.*728T>G | |
| XM_006724268.2:c.*728T>G | XP_006724331.1:n.*728T>G | |
| XM_006724268.3:c.*728T>G | XP_006724331.1:n.*728T>G | |
| NM_022720.7:c.*728T>G MANE Select | NP_073557.3:n.*728T>G | |
| NM_001190326.2:c.*728T>G | NP_001177255.1:n.*728T>G |