Revel Score:
ENST00000340934 (MANE Select)
0.045
ENST00000426638
0.045
ENST00000537020
0.045
ENST00000539697
0.045
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00005959 (SAS)
Exomes Max Group AF
0.0000627 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.222725481C>T , CM000663.2:g.222725481C>T | GRCh38 |
| NC_000001.10:g.222898823C>T , CM000663.1:g.222898823C>T | GRCh37 |
| NC_000001.9:g.220965446C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340934.10:c.506C>T MANE Select | ENSP00000343742.5:p.Ala169Val | |
| ENST00000340934.9:c.506C>T | ENSP00000343742.5:p.Ala169Val | |
| ENST00000426638.1:c.506C>T | ENSP00000398862.1:p.Ala169Val | |
| ENST00000473962.5:n.459C>T | ||
| ENST00000489191.1:n.450C>T | ||
| ENST00000537020.5:c.506C>T | ENSP00000440041.1:p.Ala169Val | |
| ENST00000539697.5:c.410C>T | ENSP00000441080.1:p.Ala137Val | |
| ENST00000612948.4:c.410C>T | ENSP00000478496.1:p.Ala137Val | |
| NM_001288579.1:c.410C>T | NP_001275508.1:p.Ala137Val | |
| NM_001288580.1:c.410C>T | NP_001275509.1:p.Ala137Val | |
| NM_001288581.1:c.506C>T | NP_001275510.1:p.Ala169Val | |
| NM_144695.3:c.506C>T | NP_653296.2:p.Ala169Val | |
| XM_005273065.2:c.506C>T | XP_005273122.2:p.Ala169Val | |
| XM_005273069.3:c.341C>T | XP_005273126.1:p.Ala114Val | |
| XM_006711173.2:c.557C>T | XP_006711236.1:p.Ala186Val | |
| XM_011509212.1:c.569C>T | XP_011507514.1:p.Ala190Val | |
| XM_011509213.1:c.548C>T | XP_011507515.1:p.Ala183Val | |
| XM_011509214.1:c.506C>T | XP_011507516.1:p.Ala169Val | |
| XM_011509215.1:c.506C>T | XP_011507517.1:p.Ala169Val | |
| XM_005273065.3:c.506C>T | XP_005273122.2:p.Ala169Val | |
| XM_005273069.5:c.341C>T | XP_005273126.1:p.Ala114Val | |
| XM_006711173.4:c.557C>T | XP_006711236.1:p.Ala186Val | |
| XM_011509212.3:c.569C>T | XP_011507514.1:p.Ala190Val | |
| XM_011509213.3:c.548C>T | XP_011507515.1:p.Ala183Val | |
| XM_011509214.3:c.506C>T | XP_011507516.1:p.Ala169Val | |
| XM_017000374.2:c.506C>T | XP_016855863.1:p.Ala169Val | |
| XM_017000375.2:c.452C>T | XP_016855864.1:p.Ala151Val | |
| XM_017000376.2:c.341C>T | XP_016855865.1:p.Ala114Val | |
| XR_001736986.1:n.548C>T | ||
| NM_144695.4:c.506C>T MANE Select | NP_653296.2:p.Ala169Val | |
| NM_001375661.1:c.506C>T | NP_001362590.1:p.Ala169Val | |
| NM_001375758.1:c.338C>T | NP_001362687.1:p.Ala113Val | |
| NM_001288579.2:c.410C>T | NP_001275508.1:p.Ala137Val | |
| NM_001288580.2:c.410C>T | NP_001275509.1:p.Ala137Val | |
| NM_001288581.2:c.506C>T | NP_001275510.1:p.Ala169Val |