Revel Score:
ENST00000445394
0.439
ENST00000367435 (MANE Select)
0.472
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001735 (NFE)
Exomes Max Group AF
0.00001757 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.193212404A>G , CM000663.2:g.193212404A>G | GRCh38 |
| NC_000001.10:g.193181534A>G , CM000663.1:g.193181534A>G | GRCh37 |
| NC_000001.9:g.191448157A>G | NCBI36 |
| NG_012691.1:g.95447A>G , LRG_507:g.95447A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367435.5:c.1081A>G MANE Select | ENSP00000356405.4:p.Ile361Val | |
| ENST00000635846.1:c.838A>G | ENSP00000490035.1:p.Ile280Val | |
| ENST00000643006.1:c.1149A>G | ENSP00000496633.1:p.Pro383= | |
| ENST00000648071.1:c.*1057A>G | ENSP00000497513.1:n.*1057A>G | |
| ENST00000649613.1:n.331A>G | ||
| ENST00000649895.1:n.1299A>G | ||
| ENST00000650197.1:c.1081A>G | ENSP00000496929.1:p.Ile361Val | |
| ENST00000367435.3:c.1081A>G | ENSP00000356405.3:p.Ile361Val | |
| NM_024529.4:c.1081A>G , LRG_507t1:c.1081A>G | NP_078805.3:p.Ile361Val | |
| NM_024529.5:c.1081A>G MANE Select | NP_078805.3:p.Ile361Val |