Revel Score:
ENST00000283871 (MANE Select)
0.217
ENST00000476082
0.217
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.80355443 (AMR)
Genomes Max Group AF
0.78932799 (AMR)
Exomes Max Group AF
0.80545355 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.120670469T>A , CM000665.2:g.120670469T>A | GRCh38 |
| NC_000003.11:g.120389316T>A , CM000665.1:g.120389316T>A | GRCh37 |
| NC_000003.10:g.121872006T>A | NCBI36 |
| NG_011957.1:g.17013A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000283871.10:c.240A>T MANE Select | ENSP00000283871.5:p.Gln80His | |
| ENST00000283871.9:c.240A>T | ENSP00000283871.5:p.Gln80His | |
| ENST00000466528.5:n.266A>T | ||
| ENST00000476082.2:c.117A>T | ENSP00000419560.2:p.Gln39His | |
| ENST00000485313.5:n.348A>T | ||
| ENST00000488183.5:n.498A>T | ||
| NM_000187.3:c.240A>T | NP_000178.2:p.Gln80His | |
| XM_005247412.1:c.240A>T | XP_005247469.1:p.Gln80His | |
| XM_005247413.1:c.240A>T | XP_005247470.1:p.Gln80His | |
| XM_005247414.3:c.240A>T | XP_005247471.1:p.Gln80His | |
| XM_011512746.1:c.240A>T | XP_011511048.1:p.Gln80His | |
| XM_005247412.2:c.240A>T | XP_005247469.1:p.Gln80His | |
| XM_005247413.2:c.240A>T | XP_005247470.1:p.Gln80His | |
| XM_005247414.5:c.240A>T | XP_005247471.1:p.Gln80His | |
| XM_011512746.2:c.240A>T | XP_011511048.1:p.Gln80His | |
| XM_017006277.2:c.-184A>T | XP_016861766.1:n.-184A>T | |
| NM_000187.4:c.240A>T MANE Select | NP_000178.2:p.Gln80His |