Revel Score:
ENST00000370575 (MANE Select)
0.192
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000124 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
7.2e-7 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.98387303A>C , CM000672.2:g.98387303A>C | GRCh38 |
| NC_000010.10:g.100147060A>C , CM000672.1:g.100147060A>C | GRCh37 |
| NC_000010.9:g.100137050A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370575.5:c.1452T>G MANE Select | ENSP00000359607.4:p.Phe484Leu | |
| ENST00000370575.4:c.1452T>G | ENSP00000359607.4:p.Phe484Leu | |
| ENST00000464808.1:n.308T>G | ||
| ENST00000483923.5:n.2338T>G | ||
| NM_032709.2:c.1452T>G | NP_116098.2:p.Phe484Leu | |
| XM_011540293.1:c.1554T>G | XP_011538595.1:p.Phe518Leu | |
| XM_011540294.1:c.1554T>G | XP_011538596.1:p.Phe518Leu | |
| XM_011540297.1:c.1089T>G | XP_011538599.1:p.Phe363Leu | |
| XM_011540298.1:c.1089T>G | XP_011538600.1:p.Phe363Leu | |
| XM_011540301.1:c.645T>G | XP_011538603.1:p.Phe215Leu | |
| XR_945839.1:n.3625T>G | ||
| XR_945840.1:n.3847T>G | ||
| XR_945841.1:n.3694T>G | ||
| XR_945842.1:n.3472T>G | ||
| XM_011540293.2:c.1554T>G | XP_011538595.1:p.Phe518Leu | |
| XM_011540301.2:c.645T>G | XP_011538603.1:p.Phe215Leu | |
| XM_017016835.1:c.1452T>G | XP_016872324.1:p.Phe484Leu | |
| XM_017016838.1:c.1089T>G | XP_016872327.1:p.Phe363Leu | |
| XM_017016839.2:c.1089T>G | XP_016872328.1:p.Phe363Leu | |
| XM_017016840.1:c.1089T>G | XP_016872329.1:p.Phe363Leu | |
| XM_017016841.1:c.1089T>G | XP_016872330.1:p.Phe363Leu | |
| XR_001747233.1:n.1499T>G | ||
| XR_001747234.1:n.1719T>G | ||
| XR_001747235.1:n.1564T>G | ||
| XR_001747236.1:n.1344T>G | ||
| XR_001747237.1:n.1344T>G | ||
| XR_001747238.1:n.1483T>G | ||
| XR_001747239.1:n.1483T>G | ||
| NM_032709.3:c.1452T>G MANE Select | NP_116098.2:p.Phe484Leu |