Revel Score:
ENST00000293350 (MANE Select)
0.152
ENST00000455361
0.152
ENST00000540132
0.152
ENST00000433981
0.152
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00129943 (SAS)
Genomes Max Group AF
0.00107496 (NFE)
Exomes Max Group AF
0.00129655 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.49465749C>G , CM000681.2:g.49465749C>G | GRCh38 |
| NC_000019.9:g.49969006C>G , CM000681.1:g.49969006C>G | GRCh37 |
| NC_000019.8:g.54660818C>G | NCBI36 |
| NG_012747.1:g.17534C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000293350.9:c.1580C>G MANE Select | ENSP00000293350.3:p.Pro527Arg | |
| ENST00000293350.8:c.1580C>G | ENSP00000293350.3:p.Pro527Arg | |
| ENST00000455361.6:c.1427C>G | ENSP00000410142.1:p.Pro476Arg | |
| ENST00000540132.5:c.1091C>G | ENSP00000445088.1:p.Pro364Arg | |
| ENST00000593417.5:c.*1038C>G | ENSP00000470160.1:n.*1038C>G | |
| ENST00000599536.1:c.337+987C>G | ||
| ENST00000599652.5:n.1758-32C>G | ||
| ENST00000600265.1:c.227C>G | ENSP00000469507.1:p.Pro76Arg | |
| NM_001145396.1:c.1427C>G | NP_001138868.1:p.Pro476Arg | |
| NM_153329.3:c.1580C>G | NP_699160.2:p.Pro527Arg | |
| XM_011526441.1:c.1493C>G | XP_011524743.1:p.Pro498Arg | |
| XM_011526442.1:c.1493C>G | XP_011524744.1:p.Pro498Arg | |
| NM_153329.4:c.1580C>G MANE Select | NP_699160.2:p.Pro527Arg | |
| NM_001145396.2:c.1427C>G | NP_001138868.1:p.Pro476Arg |