gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00008675 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
0.00009029 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.123371419G>A , CM000671.2:g.123371419G>A | GRCh38 |
| NC_000009.11:g.126133698G>A , CM000671.1:g.126133698G>A | GRCh37 |
| NC_000009.10:g.125173519G>A | NCBI36 |
| NG_051311.1:g.22355G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373631.8:c.2277G>A MANE Select | ENSP00000362734.3:p.Trp759Ter | |
| ENST00000359999.7:c.2277G>A | ENSP00000353092.3:p.Trp759Ter | |
| ENST00000373631.7:c.2277G>A | ENSP00000362734.3:p.Trp759Ter | |
| ENST00000460253.1:c.1281G>A | ENSP00000435279.1:p.Trp427Ter | |
| NM_173689.6:c.2277G>A | NP_775960.4:p.Trp759Ter | |
| NR_104603.1:n.1391G>A | ||
| XM_005251934.1:c.1281G>A | XP_005251991.1:p.Trp427Ter | |
| XM_011518556.1:c.2277G>A | XP_011516858.1:p.Trp759Ter | |
| XM_011518557.1:c.2082G>A | XP_011516859.1:p.Trp694Ter | |
| XM_011518558.1:c.2082G>A | XP_011516860.1:p.Trp694Ter | |
| XM_005251934.3:c.1281G>A | XP_005251991.1:p.Trp427Ter | |
| XM_011518556.3:c.2277G>A | XP_011516858.1:p.Trp759Ter | |
| XM_011518557.3:c.2082G>A | XP_011516859.1:p.Trp694Ter | |
| XM_011518558.3:c.2082G>A | XP_011516860.1:p.Trp694Ter | |
| NM_173689.7:c.2277G>A MANE Select | NP_775960.4:p.Trp759Ter | |
| NR_104603.2:n.1391G>A |