Revel Score:
ENST00000455537 (MANE Select)
0.382
ENST00000286452
0.382
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00004283 (AMR)
Genomes Max Group AF
0.00002259 (AMR)
Exomes Max Group AF
0.00002985 (AMR)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57569648C>T , CM000674.2:g.57569648C>T | GRCh38 |
| NC_000012.11:g.57963431C>T , CM000674.1:g.57963431C>T | GRCh37 |
| NC_000012.10:g.56249698C>T | NCBI36 |
| NG_008155.1:g.24585C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000455537.7:c.1082C>T MANE Select | ENSP00000408979.2:p.Ala361Val | |
| ENST00000674619.1:c.1082C>T | ENSP00000502270.1:p.Ala361Val | |
| ENST00000675882.1:n.69C>T | ||
| ENST00000676081.1:n.228C>T | ||
| ENST00000676457.1:c.977C>T | ENSP00000501588.1:p.Ala326Val | |
| ENST00000286452.5:c.815C>T | ENSP00000286452.5:p.Ala272Val | |
| ENST00000455537.6:c.1082C>T | ENSP00000408979.2:p.Ala361Val | |
| NM_004984.2:c.1082C>T | NP_004975.2:p.Ala361Val | |
| NM_001354705.1:c.815C>T | NP_001341634.1:p.Ala272Val | |
| NM_004984.3:c.1082C>T | NP_004975.2:p.Ala361Val | |
| XR_002957324.1:n.1315C>T | ||
| NM_004984.4:c.1082C>T MANE Select | NP_004975.2:p.Ala361Val | |
| NM_001354705.2:c.815C>T | NP_001341634.1:p.Ala272Val |