Revel Score:
ENST00000284509 (MANE Select)
0.325
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.01583949 (NFE)
Genomes Max Group AF
0.01751421 (NFE)
Exomes Max Group AF
0.01569213 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.49934162G>C , CM000677.2:g.49934162G>C | GRCh38 |
| NC_000015.9:g.50226359G>C , CM000677.1:g.50226359G>C | GRCh37 |
| NC_000015.8:g.48013651G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000284509.11:c.1308C>G MANE Select | ENSP00000284509.6:p.Phe436Leu | |
| ENST00000284509.10:c.1308C>G | ENSP00000284509.6:p.Phe436Leu | |
| ENST00000557955.5:c.1308C>G | ENSP00000453690.1:p.Phe436Leu | |
| ENST00000558906.5:c.*1027C>G | ENSP00000452956.1:n.*1027C>G | |
| ENST00000559726.5:c.*1027C>G | ENSP00000453229.1:n.*1027C>G | |
| ENST00000559829.5:c.1308C>G | ENSP00000453169.1:p.Phe436Leu | |
| NM_024837.3:c.1308C>G | NP_079113.2:p.Phe436Leu | |
| NR_073596.1:n.1538C>G | ||
| NR_073597.1:n.1450C>G | ||
| NR_073598.1:n.1557C>G | ||
| XM_006720693.2:c.1419C>G | XP_006720756.1:p.Phe473Leu | |
| XM_011522046.1:c.1503C>G | XP_011520348.1:p.Phe501Leu | |
| XM_011522047.1:c.1392C>G | XP_011520349.1:p.Phe464Leu | |
| XM_011522048.1:c.1392C>G | XP_011520350.1:p.Phe464Leu | |
| XM_011522049.1:c.1392C>G | XP_011520351.1:p.Phe464Leu | |
| XM_011522050.1:c.1392C>G | XP_011520352.1:p.Phe464Leu | |
| XM_011522051.1:c.1392C>G | XP_011520353.1:p.Phe464Leu | |
| XM_011522052.1:c.1392C>G | XP_011520354.1:p.Phe464Leu | |
| XM_011522053.1:c.1392C>G | XP_011520355.1:p.Phe464Leu | |
| XM_011522054.1:c.1344C>G | XP_011520356.1:p.Phe448Leu | |
| XM_011522055.1:c.1503C>G | XP_011520357.1:p.Phe501Leu | |
| XM_011522056.1:c.1392C>G | XP_011520358.1:p.Phe464Leu | |
| XM_011522057.1:c.1065C>G | XP_011520359.1:p.Phe355Leu | |
| XM_011522058.1:c.1065C>G | XP_011520360.1:p.Phe355Leu | |
| XM_011522059.1:c.1047C>G | XP_011520361.1:p.Phe349Leu | |
| XM_011522060.1:c.1011C>G | XP_011520362.1:p.Phe337Leu | |
| XM_011522061.1:c.1011C>G | XP_011520363.1:p.Phe337Leu | |
| XM_011522062.1:c.1011C>G | XP_011520364.1:p.Phe337Leu | |
| XM_011522063.1:c.1011C>G | XP_011520365.1:p.Phe337Leu | |
| XM_011522064.1:c.756C>G | XP_011520366.1:p.Phe252Leu | |
| XM_011522065.1:c.1503C>G | XP_011520367.1:p.Phe501Leu | |
| XM_011522066.1:c.675C>G | XP_011520368.1:p.Phe225Leu | |
| XM_011522067.1:c.1503C>G | XP_011520369.1:p.Phe501Leu | |
| XM_011522068.1:c.543C>G | XP_011520370.1:p.Phe181Leu | |
| XM_011522069.1:c.543C>G | XP_011520371.1:p.Phe181Leu | |
| XM_011522070.1:c.-52C>G | XP_011520372.1:n.-52C>G | |
| XR_931908.1:n.1526C>G | ||
| XR_931909.1:n.1526C>G | ||
| XR_931910.1:n.1526C>G | ||
| XR_931911.1:n.1526C>G | ||
| XR_931912.1:n.1526C>G | ||
| XR_931913.1:n.1526C>G | ||
| XM_011522046.2:c.1503C>G | XP_011520348.1:p.Phe501Leu | |
| XM_011522047.2:c.1392C>G | XP_011520349.1:p.Phe464Leu | |
| XM_011522049.2:c.1392C>G | XP_011520351.1:p.Phe464Leu | |
| XM_011522051.3:c.1392C>G | XP_011520353.1:p.Phe464Leu | |
| XM_011522052.3:c.1392C>G | XP_011520354.1:p.Phe464Leu | |
| XM_011522056.3:c.1392C>G | XP_011520358.3:p.Phe464Leu | |
| XM_011522058.3:c.1065C>G | XP_011520360.1:p.Phe355Leu | |
| XM_011522069.2:c.543C>G | XP_011520371.1:p.Phe181Leu | |
| XM_017022587.2:c.1308C>G | XP_016878076.2:p.Phe436Leu | |
| XM_017022591.1:c.1392C>G | XP_016878080.1:p.Phe464Leu | |
| XM_017022592.1:c.1308C>G | XP_016878081.1:p.Phe436Leu | |
| XM_017022594.1:c.1065C>G | XP_016878083.1:p.Phe355Leu | |
| XM_017022595.2:c.1011C>G | XP_016878084.1:p.Phe337Leu | |
| XM_017022596.1:c.675C>G | XP_016878085.1:p.Phe225Leu | |
| XM_024450065.1:c.1419C>G | XP_024305833.1:p.Phe473Leu | |
| XM_024450066.1:c.1344C>G | XP_024305834.1:p.Phe448Leu | |
| XM_024450067.1:c.1503C>G | XP_024305835.1:p.Phe501Leu | |
| XM_024450068.1:c.1503C>G | XP_024305836.1:p.Phe501Leu | |
| XM_024450069.1:c.756C>G | XP_024305837.1:p.Phe252Leu | |
| XM_024450070.1:c.1503C>G | XP_024305838.1:p.Phe501Leu | |
| XR_002957685.1:n.1844C>G | ||
| XR_002957686.1:n.1844C>G | ||
| XR_002957687.1:n.1848C>G | ||
| NM_024837.4:c.1308C>G MANE Select | NP_079113.2:p.Phe436Leu | |
| NR_073596.2:n.1549C>G | ||
| NR_073597.2:n.1461C>G | ||
| NR_073598.2:n.1620C>G |