Revel Score:
ENST00000356113
0.445
ENST00000414170
0.445
ENST00000299022 (MANE Select)
0.445
ENST00000433326
0.445
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00235801 (NFE)
Genomes Max Group AF
0.00323127 (NFE)
Exomes Max Group AF
0.00228573 (NFE)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.58563549C>T , CM000677.2:g.58563549C>T | GRCh38 |
| NC_000015.9:g.58855748C>T , CM000677.1:g.58855748C>T | GRCh37 |
| NC_000015.8:g.56643040C>T | NCBI36 |
| NG_011465.1:g.136574C>T | |
| NG_011465.2:g.136574C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299022.10:c.1214C>T MANE Select | ENSP00000299022.5:p.Thr405Met | |
| ENST00000299022.9:c.1214C>T | ENSP00000299022.5:p.Thr405Met | |
| ENST00000356113.10:c.1214C>T | ENSP00000348425.6:p.Thr405Met | |
| ENST00000414170.7:c.1214C>T | ENSP00000395569.3:p.Thr405Met | |
| ENST00000433326.2:c.1031C>T | ENSP00000395002.2:p.Thr344Met | |
| ENST00000559845.5:n.1071C>T | ||
| NM_000236.2:c.1214C>T | NP_000227.2:p.Thr405Met | |
| XM_005254372.1:c.1214C>T | XP_005254429.1:p.Thr405Met | |
| XM_005254374.3:c.1151C>T | XP_005254431.1:p.Thr384Met | |
| XM_006720502.2:c.1073C>T | XP_006720565.1:p.Thr358Met | |
| XM_005254374.4:c.1250C>T | XP_005254431.2:p.Thr417Met | |
| XM_006720502.4:c.1073C>T | XP_006720565.1:p.Thr358Met | |
| XM_024449916.1:c.1214C>T | XP_024305684.1:p.Thr405Met | |
| XM_024449917.1:c.1214C>T | XP_024305685.1:p.Thr405Met | |
| NM_000236.3:c.1214C>T MANE Select | NP_000227.2:p.Thr405Met |