Revel Score:
ENST00000393716 (MANE Select)
0.874
ENST00000466380
0.874
ENST00000337940
0.874
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00016569 (AFR)
Genomes Max Group AF
0.00016666 (AFR)
Exomes Max Group AF
0.00009755 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.119811695A>G , CM000665.2:g.119811695A>G | GRCh38 |
| NC_000003.11:g.119530542A>G , CM000665.1:g.119530542A>G | GRCh37 |
| NC_000003.10:g.121013232A>G | NCBI36 |
| NG_011856.1:g.36212A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393716.8:c.488A>G MANE Select | ENSP00000377319.3:p.Asp163Gly | |
| ENST00000466380.6:c.488A>G | ENSP00000420297.2:p.Asp163Gly | |
| ENST00000337940.4:c.605A>G | ENSP00000336528.4:p.Asp202Gly | |
| ENST00000393716.6:c.488A>G | ENSP00000377319.2:p.Asp163Gly | |
| ENST00000466380.5:c.488A>G | ENSP00000420297.1:p.Asp163Gly | |
| ENST00000493757.1:n.620A>G | ||
| NM_003889.3:c.488A>G | NP_003880.3:p.Asp163Gly | |
| NM_022002.2:c.605A>G | NP_071285.1:p.Asp202Gly | |
| NM_033013.2:c.488A>G | NP_148934.1:p.Asp163Gly | |
| NM_003889.4:c.488A>G MANE Select | NP_003880.3:p.Asp163Gly | |
| NM_022002.3:c.605A>G | NP_071285.1:p.Asp202Gly | |
| NM_033013.3:c.488A>G | NP_148934.1:p.Asp163Gly |