Revel Score:
ENST00000340941 (MANE Select)
0.973
ENST00000509358
0.973
ENST00000323375
0.973
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00003587 (SAS)
Genomes Max Group AF
0.00001972 (NFE)
Exomes Max Group AF
0.00003765 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.71604412C>T , CM000667.2:g.71604412C>T | GRCh38 |
| NC_000005.9:g.70900239C>T , CM000667.1:g.70900239C>T | GRCh37 |
| NC_000005.8:g.70935995C>T | NCBI36 |
| NG_008882.1:g.22125C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000505435.4:n.638C>T | ||
| ENST00000505787.8:n.2408C>T | ||
| ENST00000509358.7:c.568C>T | ENSP00000420994.3:p.His190Tyr | |
| ENST00000510895.7:n.691C>T | ||
| ENST00000629193.3:c.568C>T | ENSP00000486535.2:p.His190Tyr | |
| ENST00000681968.1:c.175C>T | ENSP00000508143.1:p.His59Tyr | |
| ENST00000682045.1:c.424C>T | ENSP00000507329.1:p.His142Tyr | |
| ENST00000682214.1:c.175C>T | ENSP00000507336.1:p.His59Tyr | |
| ENST00000682499.1:n.1389C>T | ||
| ENST00000682541.1:c.568C>T | ENSP00000507673.1:p.His190Tyr | |
| ENST00000682687.1:c.568C>T | ENSP00000507945.1:p.His190Tyr | |
| ENST00000682727.1:c.568C>T | ENSP00000507393.1:p.His190Tyr | |
| ENST00000682876.1:c.568C>T | ENSP00000508389.1:p.His190Tyr | |
| ENST00000683098.1:c.568C>T | ENSP00000507670.1:p.His190Tyr | |
| ENST00000683258.1:c.*289C>T | ENSP00000507448.1:n.*289C>T | |
| ENST00000683339.1:c.466C>T | ENSP00000507758.1:p.His156Tyr | |
| ENST00000683403.1:c.568C>T | ENSP00000507896.1:p.His190Tyr | |
| ENST00000683429.1:c.175C>T | ENSP00000507697.1:p.His59Tyr | |
| ENST00000683665.1:c.568C>T | ENSP00000507068.1:p.His190Tyr | |
| ENST00000683789.1:c.568C>T | ENSP00000507012.1:p.His190Tyr | |
| ENST00000683882.1:c.568C>T | ENSP00000506735.1:p.His190Tyr | |
| ENST00000684024.1:c.*239C>T | ENSP00000507175.1:n.*239C>T | |
| ENST00000684254.1:c.*294C>T | ENSP00000508001.1:n.*294C>T | |
| ENST00000340941.11:c.568C>T MANE Select | ENSP00000343657.6:p.His190Tyr | |
| ENST00000340941.10:c.568C>T | ENSP00000343657.6:p.His190Tyr | |
| ENST00000505435.3:n.33C>T | ||
| ENST00000505787.7:n.382C>T | ||
| ENST00000509358.6:c.568C>T | ENSP00000420994.2:p.His190Tyr | |
| ENST00000510895.6:n.182C>T | ||
| ENST00000512218.6:c.568C>T | ENSP00000423202.2:p.His190Tyr | |
| ENST00000629193.2:c.568C>T | ENSP00000486535.1:p.His190Tyr | |
| NM_022132.4:c.568C>T | NP_071415.1:p.His190Tyr | |
| XM_005248567.1:c.568C>T | XP_005248624.1:p.His190Tyr | |
| XM_011543528.1:c.568C>T | XP_011541830.1:p.His190Tyr | |
| XM_011543529.1:c.568C>T | XP_011541831.1:p.His190Tyr | |
| NM_001363147.1:c.568C>T | NP_001350076.1:p.His190Tyr | |
| XM_011543529.2:c.568C>T | XP_011541831.1:p.His190Tyr | |
| XM_017009688.1:c.568C>T | XP_016865177.1:p.His190Tyr | |
| XR_001742172.1:n.608C>T | ||
| NM_022132.5:c.568C>T MANE Select | NP_071415.1:p.His190Tyr |