Revel Score:
ENST00000283871 (MANE Select)
0.917
ENST00000476082
0.917
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00031228 (SAS)
Exomes Max Group AF
0.0003196 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.120650843G>A , CM000665.2:g.120650843G>A | GRCh38 |
| NC_000003.11:g.120369690G>A , CM000665.1:g.120369690G>A | GRCh37 |
| NC_000003.10:g.121852380G>A | NCBI36 |
| NG_011957.1:g.36639C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000283871.10:c.365C>T MANE Select | ENSP00000283871.5:p.Ala122Val | |
| ENST00000283871.9:c.365C>T | ENSP00000283871.5:p.Ala122Val | |
| ENST00000476082.2:c.242C>T | ENSP00000419560.2:p.Ala81Val | |
| ENST00000485313.5:n.473C>T | ||
| NM_000187.3:c.365C>T | NP_000178.2:p.Ala122Val | |
| XM_005247412.1:c.365C>T | XP_005247469.1:p.Ala122Val | |
| XM_005247413.1:c.365C>T | XP_005247470.1:p.Ala122Val | |
| XM_005247414.3:c.365C>T | XP_005247471.1:p.Ala122Val | |
| XM_011512746.1:c.365C>T | XP_011511048.1:p.Ala122Val | |
| XM_005247412.2:c.365C>T | XP_005247469.1:p.Ala122Val | |
| XM_005247413.2:c.365C>T | XP_005247470.1:p.Ala122Val | |
| XM_005247414.5:c.365C>T | XP_005247471.1:p.Ala122Val | |
| XM_011512746.2:c.365C>T | XP_011511048.1:p.Ala122Val | |
| XM_017006277.2:c.-59C>T | XP_016861766.1:n.-59C>T | |
| NM_000187.4:c.365C>T MANE Select | NP_000178.2:p.Ala122Val |