gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00006679 (NFE)
Exomes Max Group AF
0.00007087 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.80339228C>T , CM000674.2:g.80339228C>T | GRCh38 |
| NC_000012.11:g.80733008C>T , CM000674.1:g.80733008C>T | GRCh37 |
| NC_000012.10:g.79257139C>T | NCBI36 |
| NG_033008.1:g.134776C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000547103.7:c.5014C>T MANE Select | ENSP00000447211.2:p.Arg1672Ter | |
| ENST00000646859.1:c.4879C>T | ENSP00000496036.1:p.Arg1627Ter | |
| ENST00000298820.7:c.315C>T | ||
| ENST00000458043.6:c.4987C>T | ENSP00000400895.2:p.Arg1663Ter | |
| ENST00000547103.5:c.4951C>T | ENSP00000447211.1:p.Arg1651Ter | |
| NM_173591.3:c.4987C>T | NP_775862.3:p.Arg1663Ter | |
| XM_005268802.2:c.5038C>T | XP_005268859.1:p.Arg1680Ter | |
| XM_011538191.1:c.5038C>T | XP_011536493.1:p.Arg1680Ter | |
| XM_011538192.1:c.4885C>T | XP_011536494.1:p.Arg1629Ter | |
| XM_011538193.1:c.4672C>T | XP_011536495.1:p.Arg1558Ter | |
| XM_005268802.3:c.5038C>T | XP_005268859.1:p.Arg1680Ter | |
| XM_011538192.2:c.4885C>T | XP_011536494.1:p.Arg1629Ter | |
| NM_001368062.1:c.4852C>T | NP_001354991.1:p.Arg1618Ter | |
| NM_001368062.3:c.4879C>T | NP_001354991.2:p.Arg1627Ter | |
| NM_001378609.3:c.5014C>T MANE Select | NP_001365538.2:p.Arg1672Ter | |
| NM_001378610.3:c.5014C>T | NP_001365539.2:p.Arg1672Ter | |
| NM_173591.7:c.5014C>T | NP_775862.4:p.Arg1672Ter |