Revel Score:
ENST00000409851 (MANE Select)
0.032
ENST00000074304
0.032
ENST00000523221
0.032
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0000108 (AFR)
Genomes Max Group AF
0.00000799 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.98555781A>T , CM000664.2:g.98555781A>T | GRCh38 |
| NC_000002.11:g.99172244A>T , CM000664.1:g.99172244A>T | GRCh37 |
| NC_000002.10:g.98538676A>T | NCBI36 |
| NG_029890.1:g.115924A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706935.1:c.1723+90A>T | ENSP00000516656.1:n.1723+90A>T | |
| ENST00000409851.8:c.1795A>T MANE Select | ENSP00000386777.4:p.Thr599Ser | |
| ENST00000074304.9:c.1810A>T | ENSP00000074304.5:p.Thr604Ser | |
| ENST00000409016.8:c.1720+90A>T | ENSP00000386704.3:n.1720+90A>T | |
| ENST00000409463.5:c.232-9936A>T | ENSP00000386329.1:n.232-9936A>T | |
| ENST00000409540.7:c.1720+90A>T | ENSP00000387294.3:n.1720+90A>T | |
| ENST00000409851.7:c.1795A>T | ENSP00000386777.3:p.Thr599Ser | |
| ENST00000468638.1:n.294A>T | ||
| ENST00000523221.1:c.1810A>T | ENSP00000427722.1:p.Thr604Ser | |
| NM_001134224.1:c.1810A>T | NP_001127696.1:p.Thr604Ser | |
| NM_001134225.1:c.1795A>T | NP_001127697.1:p.Thr599Ser | |
| NM_001566.2:c.1720+90A>T | NP_001557.1:n.1720+90A>T | |
| NM_004027.2:c.1720+90A>T | NP_004018.1:n.1720+90A>T | |
| XM_006712499.2:c.1813A>T | XP_006712562.1:p.Thr605Ser | |
| XM_006712500.2:c.1810A>T | XP_006712563.1:p.Thr604Ser | |
| XM_006712501.2:c.1795A>T | XP_006712564.1:p.Thr599Ser | |
| XM_006712502.2:c.1813A>T | XP_006712565.1:p.Thr605Ser | |
| XM_006712503.2:c.1813A>T | XP_006712566.1:p.Thr605Ser | |
| XM_006712504.2:c.1723+90A>T | XP_006712567.1:n.1723+90A>T | |
| XM_006712505.2:c.1813A>T | XP_006712568.1:p.Thr605Ser | |
| XM_006712506.2:c.1723+90A>T | XP_006712569.1:n.1723+90A>T | |
| XM_006712507.2:c.1723+90A>T | XP_006712570.1:n.1723+90A>T | |
| XM_006712508.2:c.1813A>T | XP_006712571.1:p.Thr605Ser | |
| XM_011511122.1:c.1768A>T | XP_011509424.1:p.Thr590Ser | |
| XM_011511123.1:c.1813A>T | XP_011509425.1:p.Thr605Ser | |
| XM_011511124.1:c.1705+90A>T | XP_011509426.1:n.1705+90A>T | |
| XM_011511125.1:c.1480A>T | XP_011509427.1:p.Thr494Ser | |
| XM_011511126.1:c.925+90A>T | XP_011509428.1:n.925+90A>T | |
| XM_011511127.1:c.745A>T | XP_011509429.1:p.Thr249Ser | |
| XR_922915.1:n.2206A>T | ||
| XR_922916.1:n.2206A>T | ||
| NM_001351424.1:c.1723+90A>T | NP_001338353.1:n.1723+90A>T | |
| NM_001351425.1:c.1723+90A>T | NP_001338354.1:n.1723+90A>T | |
| NM_001351426.1:c.1723+90A>T | NP_001338355.1:n.1723+90A>T | |
| NM_001351427.1:c.1720+90A>T | NP_001338356.1:n.1720+90A>T | |
| NM_001351428.1:c.1705+90A>T | NP_001338357.1:n.1705+90A>T | |
| NM_001351429.1:c.1705+90A>T | NP_001338358.1:n.1705+90A>T | |
| XM_006712499.3:c.1813A>T | XP_006712562.1:p.Thr605Ser | |
| XM_006712500.3:c.1810A>T | XP_006712563.1:p.Thr604Ser | |
| XM_006712501.3:c.1795A>T | XP_006712564.1:p.Thr599Ser | |
| XM_006712502.3:c.1813A>T | XP_006712565.1:p.Thr605Ser | |
| XM_006712503.3:c.1813A>T | XP_006712566.1:p.Thr605Ser | |
| XM_006712504.3:c.1723+90A>T | XP_006712567.1:n.1723+90A>T | |
| XM_006712505.3:c.1813A>T | XP_006712568.1:p.Thr605Ser | |
| XM_006712506.3:c.1723+90A>T | XP_006712569.1:n.1723+90A>T | |
| XM_006712508.3:c.1813A>T | XP_006712571.1:p.Thr605Ser | |
| XM_011511122.2:c.1768A>T | XP_011509424.1:p.Thr590Ser | |
| XM_011511123.2:c.1813A>T | XP_011509425.1:p.Thr605Ser | |
| XM_011511124.2:c.1705+90A>T | XP_011509426.1:n.1705+90A>T | |
| XM_011511125.2:c.1480A>T | XP_011509427.1:p.Thr494Ser | |
| XM_011511127.2:c.745A>T | XP_011509429.1:p.Thr249Ser | |
| XM_017003994.1:c.1705+90A>T | XP_016859483.1:n.1705+90A>T | |
| XM_017003995.1:c.1720+90A>T | XP_016859484.1:n.1720+90A>T | |
| XM_017003996.1:c.1813A>T | XP_016859485.1:p.Thr605Ser | |
| XM_017004000.1:c.1723+90A>T | XP_016859489.1:n.1723+90A>T | |
| XM_017004001.1:c.1705+90A>T | XP_016859490.1:n.1705+90A>T | |
| XM_017004003.1:c.1723+90A>T | XP_016859492.1:n.1723+90A>T | |
| XM_024452876.1:c.1813A>T | XP_024308644.1:p.Thr605Ser | |
| XR_001738737.1:n.2201A>T | ||
| XR_001738738.1:n.2201A>T | ||
| XR_922915.2:n.2201A>T | ||
| XR_922916.2:n.2201A>T | ||
| NM_001134225.2:c.1795A>T MANE Select | NP_001127697.1:p.Thr599Ser | |
| NM_001351425.2:c.1723+90A>T | NP_001338354.1:n.1723+90A>T | |
| NM_004027.3:c.1720+90A>T | NP_004018.1:n.1720+90A>T | |
| NM_001134224.2:c.1810A>T | NP_001127696.1:p.Thr604Ser | |
| NM_001351426.2:c.1723+90A>T | NP_001338355.1:n.1723+90A>T | |
| NM_001351427.2:c.1720+90A>T | NP_001338356.1:n.1720+90A>T | |
| NM_001351428.2:c.1705+90A>T | NP_001338357.1:n.1705+90A>T | |
| NM_001351429.2:c.1705+90A>T | NP_001338358.1:n.1705+90A>T |