Revel Score:
ENST00000326873 (MANE Select)
0.401
ENST00000405031
0.401
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00006457 (AMR)
Exomes Max Group AF
0.00009365 (AMR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1226628C>G , CM000681.2:g.1226628C>G | GRCh38 |
| NC_000019.9:g.1226627C>G , CM000681.1:g.1226627C>G | GRCh37 |
| NC_000019.8:g.1177627C>G | NCBI36 |
| NG_007460.2:g.42222C>G , LRG_319:g.42222C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000585465.3:c.*2884C>G | ENSP00000490268.2:n.*2884C>G | |
| ENST00000585748.3:c.911C>G | ENSP00000477641.2:p.Ser304Trp | |
| ENST00000585851.2:c.1109C>G | ENSP00000467912.2:p.Ser370Trp | |
| ENST00000326873.12:c.1283C>G MANE Select | ENSP00000324856.6:p.Ser428Trp | |
| ENST00000326873.11:c.1283C>G | ENSP00000324856.6:p.Ser428Trp | |
| ENST00000585465.2:n.3016C>G | ||
| ENST00000586243.5:c.1280C>G | ENSP00000467240.2:p.Ser427Trp | |
| ENST00000589152.5:n.1981C>G | ||
| NM_000455.4:c.1283C>G , LRG_319t1:c.1283C>G | NP_000446.1:p.Ser428Trp | |
| XM_005259617.1:c.1278C>G | XP_005259674.1:p.Val426= | |
| XM_011528209.1:c.1056C>G | XP_011526511.1:p.Val352= | |
| XM_005259617.3:c.1278C>G | XP_005259674.1:p.Val426= | |
| XM_011528209.2:c.1056C>G | XP_011526511.1:p.Val352= | |
| XR_001753738.2:n.2089C>G | ||
| XR_001753740.2:n.2059C>G | ||
| NM_000455.5:c.1283C>G MANE Select | NP_000446.1:p.Ser428Trp |