Revel Score:
ENST00000312251 (MANE Select)
0.082
ENST00000381955
0.082
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00020888 (EAS)
Exomes Max Group AF
0.00021625 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.5028124G>C , CM000678.2:g.5028124G>C | GRCh38 |
| NC_000016.9:g.5078125G>C , CM000678.1:g.5078125G>C | GRCh37 |
| NC_000016.8:g.5018126G>C | NCBI36 |
| NG_028152.1:g.10818C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000312251.8:c.982C>G MANE Select | ENSP00000310998.3:p.Arg328Gly | |
| ENST00000649828.1:c.*154C>G | ENSP00000498032.1:n.*154C>G | |
| ENST00000312251.7:c.982C>G | ENSP00000310998.3:p.Arg328Gly | |
| ENST00000381955.7:c.982C>G | ENSP00000371381.3:p.Arg328Gly | |
| ENST00000562346.2:c.566C>G | ||
| ENST00000562746.5:c.*154C>G | ENSP00000455900.1:n.*154C>G | |
| ENST00000563578.5:c.738+756C>G | ||
| ENST00000564397.5:n.2035C>G | ||
| ENST00000565876.5:c.481-745C>G | ||
| ENST00000566137.5:n.280C>G | ||
| ENST00000567739.5:n.301C>G | ||
| ENST00000568202.5:n.845C>G | ||
| ENST00000568528.1:n.491C>G | ||
| ENST00000569296.5:c.595C>G | ENSP00000465949.1:n.595C>G | |
| NM_016256.3:c.982C>G | NP_057340.2:p.Arg328Gly | |
| XM_011522517.1:c.982C>G | XP_011520819.1:p.Arg328Gly | |
| XM_011522518.1:c.*80C>G | XP_011520820.1:n.*80C>G | |
| XR_243285.1:n.1078C>G | ||
| XM_011522517.3:c.982C>G | XP_011520819.1:p.Arg328Gly | |
| XR_001751908.2:n.1077C>G | ||
| XR_001751909.2:n.1081C>G | ||
| XR_001751910.2:n.1110C>G | ||
| XR_001751911.2:n.1110C>G | ||
| XR_001751912.2:n.1114C>G | ||
| NM_016256.4:c.982C>G MANE Select | NP_057340.2:p.Arg328Gly |