Revel Score:
ENST00000039007 (MANE Select)
0.593
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000593 (SAS)
Exomes Max Group AF
0.00000622 (SAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38381417C>T , CM000685.2:g.38381417C>T | GRCh38 |
| NC_000023.10:g.38240670C>T , CM000685.1:g.38240670C>T | GRCh37 |
| NC_000023.9:g.38125614C>T | NCBI36 |
| NG_008471.1:g.33935C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000039007.5:c.374C>T MANE Select | ENSP00000039007.4:p.Thr125Met | |
| ENST00000643344.1:c.*124C>T | ENSP00000496606.1:n.*124C>T | |
| ENST00000039007.4:c.374C>T | ENSP00000039007.4:p.Thr125Met | |
| ENST00000465127.1:c.172-284704C>T | ENSP00000417050.1:n.172-284704C>T | |
| ENST00000488812.1:n.411C>T | ||
| NM_000531.5:c.374C>T | NP_000522.3:p.Thr125Met | |
| XM_017029556.1:c.374C>T | XP_016885045.1:p.Thr125Met | |
| NM_000531.6:c.374C>T MANE Select | NP_000522.3:p.Thr125Met |