Revel Score:
ENST00000374518 (MANE Select)
0.509
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000543 (NFE)
Exomes Max Group AF
0.00000531 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.42820527G>A , CM000672.2:g.42820527G>A | GRCh38 |
| NC_000010.10:g.43315975G>A , CM000672.1:g.43315975G>A | GRCh37 |
| NC_000010.9:g.42635981G>A | NCBI36 |
| NG_046921.1:g.43022G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374518.6:c.2789G>A MANE Select | ENSP00000363642.4:p.Arg930His | |
| ENST00000374518.5:c.2789G>A | ENSP00000363642.4:p.Arg930His | |
| NM_014753.3:c.2789G>A | NP_055568.3:p.Arg930His | |
| XM_005271846.2:c.2789G>A | XP_005271903.1:p.Arg930His | |
| XM_005271847.2:c.2600G>A | XP_005271904.1:p.Arg867His | |
| XM_005271848.2:c.2600G>A | XP_005271905.1:p.Arg867His | |
| XM_006718081.2:c.*10G>A | XP_006718144.1:n.*10G>A | |
| XM_011540402.1:c.2789G>A | XP_011538704.1:p.Arg930His | |
| XM_011540403.1:c.1556G>A | XP_011538705.1:p.Arg519His | |
| XR_246522.1:n.2878G>A | ||
| XR_428728.2:n.2800G>A | ||
| XM_005271846.3:c.2789G>A | XP_005271903.1:p.Arg930His | |
| XM_005271848.3:c.2600G>A | XP_005271905.1:p.Arg867His | |
| XM_011540402.2:c.2789G>A | XP_011538704.1:p.Arg930His | |
| XM_011540403.2:c.1556G>A | XP_011538705.1:p.Arg519His | |
| XR_001747266.1:n.2760G>A | ||
| XR_002957049.1:n.2918G>A | ||
| NM_014753.4:c.2789G>A MANE Select | NP_055568.3:p.Arg930His |