Revel Score:
ENST00000336615 (MANE Select)
0.103
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00658846 (AFR)
Genomes Max Group AF
0.00604286 (AFR)
Exomes Max Group AF
0.0068165 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.824711C>A , CM000673.2:g.824711C>A | GRCh38 |
| NC_000011.9:g.824711C>A , CM000673.1:g.824711C>A | GRCh37 |
| NC_000011.8:g.814711C>A | NCBI36 |
| NG_023394.1:g.10811C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336615.9:c.1364C>A MANE Select | ENSP00000337701.4:p.Pro455Gln | |
| ENST00000336615.8:c.1364C>A | ENSP00000337701.4:p.Pro455Gln | |
| ENST00000525250.5:n.2218C>A | ||
| ENST00000529255.1:n.794C>A | ||
| ENST00000617551.1:c.362C>A | ENSP00000481602.1:p.Pro121Gln | |
| NM_020376.3:c.1364C>A | NP_065109.1:p.Pro455Gln | |
| XM_006718265.2:c.1506C>A | XP_006718328.1:p.Pro502= | |
| XM_006718266.2:c.1506C>A | XP_006718329.1:p.Pro502= | |
| XM_006718265.3:c.1506C>A | XP_006718328.1:p.Pro502= | |
| XM_006718266.3:c.1506C>A | XP_006718329.1:p.Pro502= | |
| XM_017018028.1:c.1364C>A | XP_016873517.1:p.Pro455Gln | |
| XM_024448618.1:c.1592C>A | XP_024304386.1:p.Pro531Gln | |
| NM_020376.4:c.1364C>A MANE Select | NP_065109.1:p.Pro455Gln |