Revel Score:
ENST00000330342 (MANE Select)
0.407
ENST00000534943
0.407
ENST00000544833
0.407
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00129214 (AFR)
Genomes Max Group AF
0.00115065 (AFR)
Exomes Max Group AF
0.00126871 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.123756905C>T , CM000674.2:g.123756905C>T | GRCh38 |
| NC_000012.11:g.124241452C>T , CM000674.1:g.124241452C>T | GRCh37 |
| NC_000012.10:g.122807405C>T | NCBI36 |
| NG_012743.1:g.49588C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330342.8:c.2384C>T MANE Select | ENSP00000332247.2:p.Ala795Val | |
| ENST00000675344.1:c.*1405C>T | ENSP00000501953.1:n.*1405C>T | |
| ENST00000330342.7:c.2384C>T | ENSP00000332247.2:p.Ala795Val | |
| ENST00000534943.5:c.224C>T | ENSP00000443726.1:p.Ala75Val | |
| ENST00000543687.1:n.579C>T | ||
| ENST00000544833.1:c.230C>T | ENSP00000441143.1:p.Ala77Val | |
| NM_012463.3:c.2384C>T | NP_036595.2:p.Ala795Val | |
| XM_005253563.1:c.2264C>T | XP_005253620.1:p.Ala755Val | |
| XM_006719317.2:c.1871C>T | XP_006719380.1:p.Ala624Val | |
| XM_006719318.2:c.1562C>T | XP_006719381.1:p.Ala521Val | |
| XR_429088.1:n.2547C>T | ||
| XM_024448910.1:c.2264C>T | XP_024304678.1:p.Ala755Val | |
| XM_024448911.1:c.1871C>T | XP_024304679.1:p.Ala624Val | |
| XM_024448912.1:c.1562C>T | XP_024304680.1:p.Ala521Val | |
| NM_012463.4:c.2384C>T MANE Select | NP_036595.2:p.Ala795Val |