Revel Score:
ENST00000249760
0.946
ENST00000479013
0.946
ENST00000487418 (MANE Select)
0.946
ENST00000497252
0.946
ENST00000473112
0.500
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000739 (EAS)
Exomes Max Group AF
0.00000835 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.40415412C>T , CM000677.2:g.40415412C>T | GRCh38 |
| NC_000015.9:g.40707611C>T , CM000677.1:g.40707611C>T | GRCh37 |
| NC_000015.8:g.38494903C>T | NCBI36 |
| NG_011986.1:g.14926C>T | |
| NG_011986.2:g.14928C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000479013.7:c.800C>T | ENSP00000417990.3:p.Ala267Val | |
| ENST00000487418.8:c.890C>T MANE Select | ENSP00000418397.3:p.Ala297Val | |
| ENST00000650656.1:c.809C>T | ENSP00000498731.1:p.Ala270Val | |
| ENST00000651168.1:c.899C>T | ENSP00000499074.1:p.Ala300Val | |
| ENST00000473112.6:c.649C>T | ||
| ENST00000479013.6:c.809C>T | ENSP00000417990.2:p.Ala270Val | |
| ENST00000481262.6:c.402C>T | ||
| ENST00000487418.6:c.899C>T | ENSP00000418397.2:p.Ala300Val | |
| ENST00000491554.6:c.287C>T | ENSP00000453146.1:p.Ala96Val | |
| ENST00000497252.5:n.271C>T | ||
| ENST00000497816.1:n.267C>T | ||
| ENST00000560660.1:n.589C>T | ||
| NM_001159508.1:c.809C>T | NP_001152980.1:p.Ala270Val | |
| NM_002225.3:c.899C>T | NP_002216.2:p.Ala300Val | |
| XM_005254350.2:c.899C>T | XP_005254407.1:p.Ala300Val | |
| XM_005254356.2:c.805C>T | XP_005254413.1:p.Arg269Trp | |
| XM_006720491.2:c.842C>T | XP_006720554.1:p.Ala281Val | |
| XM_006720492.2:c.899C>T | XP_006720555.1:p.Ala300Val | |
| XM_006720493.2:c.899C>T | XP_006720556.1:p.Ala300Val | |
| XM_006720494.2:c.899C>T | XP_006720557.1:p.Ala300Val | |
| XM_006720495.2:c.899C>T | XP_006720558.1:p.Ala300Val | |
| XM_011521523.1:c.899C>T | XP_011519825.1:p.Ala300Val | |
| XR_243097.3:n.805C>T | ||
| XR_243098.2:n.805C>T | ||
| XR_429453.2:n.1000C>T | ||
| NM_001159508.2:c.800C>T | NP_001152980.2:p.Ala267Val | |
| NM_001354597.2:c.842C>T | NP_001341526.1:p.Ala281Val | |
| NM_001354598.2:c.890C>T | NP_001341527.2:p.Ala297Val | |
| NM_001354599.2:c.977C>T | NP_001341528.2:p.Ala326Val | |
| NM_001354600.2:c.977C>T | NP_001341529.2:p.Ala326Val | |
| NM_001354601.2:c.890C>T | NP_001341530.2:p.Ala297Val | |
| NM_002225.4:c.890C>T | NP_002216.3:p.Ala297Val | |
| NR_148925.1:n.1300C>T | ||
| XM_006720495.3:c.899C>T | XP_006720558.1:p.Ala300Val | |
| XM_017022149.1:c.986C>T | XP_016877638.1:p.Ala329Val | |
| XM_017022150.1:c.986C>T | XP_016877639.1:p.Ala329Val | |
| XM_017022153.1:c.986C>T | XP_016877642.1:p.Ala329Val | |
| XM_017022154.2:c.929C>T | XP_016877643.1:p.Ala310Val | |
| XM_017022155.2:c.986C>T | XP_016877644.1:p.Ala329Val | |
| XM_017022157.1:c.986C>T | XP_016877646.1:p.Ala329Val | |
| XR_001751263.1:n.1249C>T | ||
| XR_001751264.1:n.1356C>T | ||
| NM_001159508.3:c.800C>T | NP_001152980.2:p.Ala267Val | |
| NM_001354597.3:c.842C>T | NP_001341526.1:p.Ala281Val | |
| NM_001354598.3:c.890C>T | NP_001341527.2:p.Ala297Val | |
| NM_001354599.3:c.977C>T | NP_001341528.2:p.Ala326Val | |
| NM_001354600.3:c.977C>T | NP_001341529.2:p.Ala326Val | |
| NM_001354601.3:c.890C>T | NP_001341530.2:p.Ala297Val | |
| NM_002225.5:c.890C>T MANE Select | NP_002216.3:p.Ala297Val | |
| NR_148925.2:n.1302C>T |