Revel Score:
ENST00000332509 (MANE Select)
0.821
ENST00000419848
0.821
ENST00000335539
0.821
ENST00000402064
0.821
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00001773 (EAS)
Exomes Max Group AF
0.00002004 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.38115588T>C , CM000684.2:g.38115588T>C | GRCh38 |
| NC_000022.10:g.38511595T>C , CM000684.1:g.38511595T>C | GRCh37 |
| NC_000022.9:g.36841541T>C | NCBI36 |
| NG_007094.2:g.95103A>G | |
| NG_033059.2:g.82A>G | |
| NG_007094.3:g.104191A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332509.8:c.1973A>G MANE Select | ENSP00000333142.3:p.Asn658Ser | |
| ENST00000427114.6:c.1277A>G | ENSP00000407743.2:p.Asn426Ser | |
| ENST00000436218.6:c.*1171A>G | ENSP00000401242.1:n.*1171A>G | |
| ENST00000655142.1:c.*831A>G | ENSP00000499715.1:n.*831A>G | |
| ENST00000660610.1:c.1973A>G | ENSP00000499555.1:p.Asn658Ser | |
| ENST00000663895.1:c.1973A>G | ENSP00000499712.1:p.Asn658Ser | |
| ENST00000664587.1:c.1835A>G | ENSP00000499394.1:p.Asn612Ser | |
| ENST00000665987.1:c.*1712A>G | ENSP00000499423.1:n.*1712A>G | |
| ENST00000667521.1:c.1973A>G | ENSP00000499665.1:p.Asn658Ser | |
| ENST00000668499.1:c.*1695A>G | ENSP00000499626.1:n.*1695A>G | |
| ENST00000668949.1:c.1811A>G | ENSP00000499711.1:p.Asn604Ser | |
| ENST00000671093.1:n.1905A>G | ||
| ENST00000673413.1:c.*1642A>G | ENSP00000500600.1:n.*1642A>G | |
| ENST00000332509.7:c.1973A>G | ENSP00000333142.3:p.Asn658Ser | |
| ENST00000335539.7:c.1811A>G | ENSP00000335149.3:p.Asn604Ser | |
| ENST00000402064.5:c.1811A>G | ENSP00000386100.1:p.Asn604Ser | |
| ENST00000454670.1:c.709A>G | ||
| ENST00000496409.1:n.681A>G | ||
| NM_001004426.1:c.1811A>G | NP_001004426.1:p.Asn604Ser | |
| NM_001199562.1:c.1811A>G | NP_001186491.1:p.Asn604Ser | |
| NM_003560.2:c.1973A>G | NP_003551.2:p.Asn658Ser | |
| XM_005261764.1:c.1973A>G | XP_005261821.1:p.Asn658Ser | |
| XM_005261765.1:c.1973A>G | XP_005261822.1:p.Asn658Ser | |
| XM_005261766.1:c.1973A>G | XP_005261823.1:p.Asn658Ser | |
| XM_006724332.2:c.1973A>G | XP_006724395.1:p.Asn658Ser | |
| XM_011530422.1:c.1868A>G | XP_011528724.1:p.Asn623Ser | |
| XM_011530423.1:c.1439A>G | XP_011528725.1:p.Asn480Ser | |
| XM_011530424.1:c.1439A>G | XP_011528726.1:p.Asn480Ser | |
| XM_011530425.1:c.1439A>G | XP_011528727.1:p.Asn480Ser | |
| XR_244390.1:n.2249A>G | ||
| XR_430411.1:n.2133A>G | ||
| XR_937937.1:n.2172A>G | ||
| XR_937938.1:n.2335A>G | ||
| XR_937939.1:n.2224A>G | ||
| NM_001004426.2:c.1811A>G | NP_001004426.1:p.Asn604Ser | |
| NM_001199562.2:c.1811A>G | NP_001186491.1:p.Asn604Ser | |
| NM_001349864.1:c.1973A>G | NP_001336793.1:p.Asn658Ser | |
| NM_001349865.1:c.1811A>G | NP_001336794.1:p.Asn604Ser | |
| NM_001349866.1:c.1811A>G | NP_001336795.1:p.Asn604Ser | |
| NM_001349867.1:c.1439A>G | NP_001336796.1:p.Asn480Ser | |
| NM_001349868.1:c.1295A>G | NP_001336797.1:p.Asn432Ser | |
| NM_001349869.1:c.1277A>G | NP_001336798.1:p.Asn426Ser | |
| NM_003560.3:c.1973A>G | NP_003551.2:p.Asn658Ser | |
| XM_005261764.3:c.1973A>G | XP_005261821.1:p.Asn658Ser | |
| XM_005261765.2:c.1973A>G | XP_005261822.1:p.Asn658Ser | |
| XM_006724332.4:c.1973A>G | XP_006724395.1:p.Asn658Ser | |
| XM_017028983.1:c.1277A>G | XP_016884472.1:p.Asn426Ser | |
| XM_024452280.1:c.1439A>G | XP_024308048.1:p.Asn480Ser | |
| XM_024452281.1:c.1439A>G | XP_024308049.1:p.Asn480Ser | |
| XM_024452282.1:c.1439A>G | XP_024308050.1:p.Asn480Ser | |
| XM_024452283.1:c.1295A>G | XP_024308051.1:p.Asn432Ser | |
| XM_024452284.1:c.1277A>G | XP_024308052.1:p.Asn426Ser | |
| XM_024452285.1:c.1277A>G | XP_024308053.1:p.Asn426Ser | |
| XR_001755325.2:n.2156A>G | ||
| XR_001755327.2:n.2151A>G | ||
| XR_001755328.2:n.2117A>G | ||
| XR_244390.3:n.2233A>G | ||
| XR_937938.3:n.2319A>G | ||
| XR_937939.3:n.2208A>G | ||
| NM_001199562.3:c.1811A>G | NP_001186491.1:p.Asn604Ser | |
| NM_001349864.2:c.1973A>G | NP_001336793.1:p.Asn658Ser | |
| NM_001349865.2:c.1811A>G | NP_001336794.1:p.Asn604Ser | |
| NM_001349866.2:c.1811A>G | NP_001336795.1:p.Asn604Ser | |
| NM_001349867.2:c.1439A>G | NP_001336796.1:p.Asn480Ser | |
| NM_001349868.2:c.1295A>G | NP_001336797.1:p.Asn432Ser | |
| NM_001349869.2:c.1277A>G | NP_001336798.1:p.Asn426Ser | |
| NM_003560.4:c.1973A>G MANE Select | NP_003551.2:p.Asn658Ser | |
| NM_001004426.3:c.1811A>G | NP_001004426.1:p.Asn604Ser |