Revel Score:
ENST00000420881
0.231
ENST00000373034 (MANE Select)
0.231
ENST00000255531
0.231
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0000058 (AFR)
Genomes Max Group AF
0.00001075 (AFR)
Exomes Max Group AF
4e-7 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.100408470G>A , CM000685.2:g.100408470G>A | GRCh38 |
| NC_000023.10:g.99663468G>A , CM000685.1:g.99663468G>A | GRCh37 |
| NC_000023.9:g.99550124G>A | NCBI36 |
| NG_021319.1:g.6804C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255531.8:c.128C>T | ENSP00000255531.7:p.Ala43Val | |
| ENST00000373034.8:c.128C>T MANE Select | ENSP00000362125.4:p.Ala43Val | |
| ENST00000420881.6:c.128C>T | ENSP00000400327.2:p.Ala43Val | |
| NM_001105243.1:c.128C>T | NP_001098713.1:p.Ala43Val | |
| NM_001184880.1:c.128C>T | NP_001171809.1:p.Ala43Val | |
| NM_020766.2:c.128C>T | NP_065817.2:p.Ala43Val | |
| XM_011530997.1:c.128C>T | XP_011529299.1:p.Ala43Val | |
| XM_011530997.2:c.128C>T | XP_011529299.1:p.Ala43Val | |
| NM_001105243.2:c.128C>T | NP_001098713.1:p.Ala43Val | |
| NM_001184880.2:c.128C>T MANE Select | NP_001171809.1:p.Ala43Val | |
| NM_020766.3:c.128C>T | NP_065817.2:p.Ala43Val |