Revel Score:
ENST00000367964
0.039
ENST00000294800
0.039
ENST00000531221
0.039
ENST00000534776
0.039
gnomAD v4:
Joint Max Group AF
0.00000839 (NFE)
Exomes Max Group AF
0.00000874 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.161629864G>A , CM000663.2:g.161629864G>A | GRCh38 |
| NC_000001.10:g.161599654G>A , CM000663.1:g.161599654G>A | GRCh37 |
| NC_000001.9:g.159866278G>A | NCBI36 |
| NG_032926.1:g.7100C>T | |
| NG_032926.2:g.7100C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000421702.4:c.230C>T | ENSP00000394204.3:p.Ala77Val | |
| ENST00000533780.2:n.609C>T | ||
| ENST00000699402.1:c.40+1191C>T | ENSP00000514363.1:n.40+1191C>T | |
| ENST00000699403.1:c.61+504C>T | ENSP00000514364.1:n.61+504C>T | |
| ENST00000699523.1:n.150C>T | ||
| ENST00000421702.3:c.230C>T | ENSP00000394204.3:p.Ala77Val | |
| ENST00000650385.1:c.233C>T MANE Select | ENSP00000497461.1:p.Ala78Val | |
| ENST00000294800.7:c.233C>T | ENSP00000294800.3:p.Ala78Val | |
| ENST00000367964.6:c.233C>T | ENSP00000356941.2:p.Ala78Val | |
| ENST00000421702.2:c.294C>T | ||
| ENST00000531221.5:c.341C>T | ENSP00000433642.1:p.Ala114Val | |
| ENST00000533780.1:n.387C>T | ||
| ENST00000534776.1:c.182C>T | ENSP00000437084.1:p.Ala61Val | |
| ENST00000613418.4:c.182C>T | ENSP00000482838.1:p.Ala61Val | |
| ENST00000614870.4:c.182C>T | ENSP00000478466.1:p.Ala61Val | |
| NM_000570.4:c.233C>T | NP_000561.3:p.Ala78Val | |
| NM_001244753.1:c.341C>T | NP_001231682.1:p.Ala114Val | |
| NM_001271035.1:c.338C>T | NP_001257964.1:p.Ala113Val | |
| NM_001271036.1:c.182C>T | NP_001257965.1:p.Ala61Val | |
| NM_001271037.1:c.182C>T | NP_001257966.1:p.Ala61Val | |
| NM_001244753.2:c.233C>T MANE Select | NP_001231682.2:p.Ala78Val | |
| NM_001271035.2:c.230C>T | NP_001257964.2:p.Ala77Val | |
| NM_000570.5:c.233C>T | NP_000561.3:p.Ala78Val | |
| NM_001271036.2:c.182C>T | NP_001257965.1:p.Ala61Val | |
| NM_001271037.2:c.182C>T | NP_001257966.1:p.Ala61Val |