Revel Score:
ENST00000260947 (MANE Select)
0.147
ENST00000449967
0.147
gnomAD v4:
Joint Max Group AF
0.00000739 (EAS)
Exomes Max Group AF
0.00000835 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.214767525T>C , CM000664.2:g.214767525T>C | GRCh38 |
| NC_000002.11:g.215632249T>C , CM000664.1:g.215632249T>C | GRCh37 |
| NC_000002.10:g.215340494T>C | NCBI36 |
| NG_012047.2:g.47180A>G | |
| NG_012047.3:g.47187A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260947.9:c.1525A>G MANE Select | ENSP00000260947.4:p.Ile509Val | |
| ENST00000421162.2:c.216-14970A>G | ENSP00000392245.2:n.216-14970A>G | |
| ENST00000613192.2:c.159-37017A>G | ENSP00000483275.2:n.159-37017A>G | |
| ENST00000613374.5:c.159-14970A>G | ENSP00000484464.1:n.159-14970A>G | |
| ENST00000613706.5:c.1117A>G | ENSP00000484976.2:p.Ile373Val | |
| ENST00000617164.5:c.1468A>G | ENSP00000480470.1:p.Ile490Val | |
| ENST00000619009.5:c.364+24772A>G | ENSP00000482293.1:n.364+24772A>G | |
| ENST00000650978.1:c.2900A>G | ||
| ENST00000260947.8:c.1525A>G | ENSP00000260947.4:p.Ile509Val | |
| ENST00000421162.1:c.216-14970A>G | ENSP00000392245.1:n.216-14970A>G | |
| ENST00000455743.5:c.*1145A>G | ENSP00000412186.1:n.*1145A>G | |
| ENST00000613192.1:c.74-37017A>G | ENSP00000483275.1:n.74-37017A>G | |
| ENST00000613374.4:c.159-14970A>G | ENSP00000484464.1:n.159-14970A>G | |
| ENST00000613706.4:c.216-14970A>G | ENSP00000484976.1:n.216-14970A>G | |
| ENST00000617164.4:c.1468A>G | ENSP00000480470.1:p.Ile490Val | |
| ENST00000619009.4:c.364+24772A>G | ENSP00000482293.1:n.364+24772A>G | |
| ENST00000620057.4:c.*191A>G | ENSP00000481988.1:n.*191A>G | |
| NM_000465.3:c.1525A>G | NP_000456.2:p.Ile509Val | |
| NM_001282543.1:c.1468A>G | NP_001269472.1:p.Ile490Val | |
| NM_001282545.1:c.216-14970A>G | NP_001269474.1:n.216-14970A>G | |
| NM_001282548.1:c.159-14970A>G | NP_001269477.1:n.159-14970A>G | |
| NM_001282549.1:c.364+24772A>G | NP_001269478.1:n.364+24772A>G | |
| NR_104212.1:n.1518A>G | ||
| NR_104215.1:n.1461A>G | ||
| NR_104216.1:n.717A>G | ||
| XM_011511567.1:c.1471A>G | XP_011509869.1:p.Ile491Val | |
| XM_011511568.1:c.1525A>G | XP_011509870.1:p.Ile509Val | |
| XM_017004613.1:c.1624A>G | XP_016860102.1:p.Ile542Val | |
| XM_017004614.1:c.1624A>G | XP_016860103.1:p.Ile542Val | |
| XR_002959322.1:n.1715A>G | ||
| NM_000465.4:c.1525A>G MANE Select | NP_000456.2:p.Ile509Val | |
| NM_001282543.2:c.1468A>G | NP_001269472.1:p.Ile490Val | |
| NM_001282545.2:c.216-14970A>G | NP_001269474.1:n.216-14970A>G | |
| NM_001282548.2:c.159-14970A>G | NP_001269477.1:n.159-14970A>G | |
| NM_001282549.2:c.364+24772A>G | NP_001269478.1:n.364+24772A>G | |
| NR_104212.2:n.1490A>G | ||
| NR_104215.2:n.1433A>G | ||
| NR_104216.2:n.689A>G |