Revel Score:
ENST00000405031
0.012
ENST00000326873 (MANE Select)
0.175
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0000435 (NFE)
Genomes Max Group AF
0.00003762 (NFE)
Exomes Max Group AF
0.00004091 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1226599C>G , CM000681.2:g.1226599C>G | GRCh38 |
| NC_000019.9:g.1226598C>G , CM000681.1:g.1226598C>G | GRCh37 |
| NC_000019.8:g.1177598C>G | NCBI36 |
| NG_007460.2:g.42193C>G , LRG_319:g.42193C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000585465.3:c.*2855C>G | ENSP00000490268.2:n.*2855C>G | |
| ENST00000585748.3:c.882C>G | ENSP00000477641.2:p.Cys294Trp | |
| ENST00000585851.2:c.1080C>G | ENSP00000467912.2:p.Cys360Trp | |
| ENST00000326873.12:c.1254C>G MANE Select | ENSP00000324856.6:p.Cys418Trp | |
| ENST00000326873.11:c.1254C>G | ENSP00000324856.6:p.Cys418Trp | |
| ENST00000585465.2:n.2987C>G | ||
| ENST00000586243.5:c.1253C>G | ENSP00000467240.2:p.Ala418Gly | |
| ENST00000589152.5:n.1952C>G | ||
| NM_000455.4:c.1254C>G , LRG_319t1:c.1254C>G | NP_000446.1:p.Cys418Trp | |
| XM_005259617.1:c.1249C>G | XP_005259674.1:p.Leu417Val | |
| XM_011528209.1:c.1027C>G | XP_011526511.1:p.Leu343Val | |
| XM_005259617.3:c.1249C>G | XP_005259674.1:p.Leu417Val | |
| XM_011528209.2:c.1027C>G | XP_011526511.1:p.Leu343Val | |
| XR_001753738.2:n.2060C>G | ||
| XR_001753740.2:n.2030C>G | ||
| NM_000455.5:c.1254C>G MANE Select | NP_000446.1:p.Cys418Trp |