Revel Score:
ENST00000439128
0.026
ENST00000511633
0.026
ENST00000510533
0.026
ENST00000507142 (MANE Select)
0.026
ENST00000512193
0.026
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000805 (NFE)
Exomes Max Group AF
0.00000854 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.169477166G>C , CM000666.2:g.169477166G>C | GRCh38 |
| NC_000004.11:g.170398317G>C , CM000666.1:g.170398317G>C | GRCh37 |
| NC_000004.10:g.170634892G>C | NCBI36 |
| NG_027982.1:g.140462C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000685111.1:c.2224C>G | ENSP00000508844.1:p.Leu742Val | |
| ENST00000685677.1:n.1690C>G | ||
| ENST00000686697.1:c.2086C>G | ENSP00000508689.1:p.Leu696Val | |
| ENST00000687054.1:n.2886C>G | ||
| ENST00000687528.1:c.*1127C>G | ENSP00000510228.1:n.*1127C>G | |
| ENST00000687643.1:c.2335C>G | ENSP00000509309.1:p.Leu779Val | |
| ENST00000688934.1:c.415C>G | ENSP00000510760.1:p.Leu139Val | |
| ENST00000690540.1:n.1842C>G | ||
| ENST00000507142.6:c.2392C>G MANE Select | ENSP00000424757.2:p.Leu798Val | |
| ENST00000638824.1:n.520C>G | ||
| ENST00000439128.6:c.2308C>G | ENSP00000408020.2:p.Leu770Val | |
| ENST00000507142.5:c.2392C>G | ENSP00000424757.1:p.Leu798Val | |
| ENST00000510533.5:c.2176C>G | ENSP00000427653.1:p.Leu726Val | |
| ENST00000511633.5:c.2260C>G | ENSP00000423332.1:p.Leu754Val | |
| ENST00000512193.5:c.2101C>G | ENSP00000424938.1:p.Leu701Val | |
| NM_001199397.1:c.2392C>G | NP_001186326.1:p.Leu798Val | |
| NM_001199398.1:c.2260C>G | NP_001186327.1:p.Leu754Val | |
| NM_001199399.1:c.2101C>G | NP_001186328.1:p.Leu701Val | |
| NM_001199400.1:c.2176C>G | NP_001186329.1:p.Leu726Val | |
| NM_012224.2:c.2308C>G | NP_036356.1:p.Leu770Val | |
| XM_006714228.1:c.2392C>G | XP_006714291.1:p.Leu798Val | |
| XM_011532003.1:c.2308C>G | XP_011530305.1:p.Leu770Val | |
| XM_011532004.1:c.2176C>G | XP_011530306.1:p.Leu726Val | |
| XM_017008249.1:c.1771C>G | XP_016863738.1:p.Leu591Val | |
| XM_017008251.1:c.1687C>G | XP_016863740.1:p.Leu563Val | |
| XM_017008252.2:c.1687C>G | XP_016863741.1:p.Leu563Val | |
| XM_017008253.1:c.1240C>G | XP_016863742.1:p.Leu414Val | |
| XM_017008254.1:c.1036C>G | XP_016863743.1:p.Leu346Val | |
| XM_024454065.1:c.1771C>G | XP_024309833.1:p.Leu591Val | |
| XR_001741233.1:n.2719+2237C>G | ||
| XR_001741234.2:n.3668C>G | ||
| NM_001199397.3:c.2392C>G MANE Select | NP_001186326.1:p.Leu798Val | |
| NM_001199398.2:c.2260C>G | NP_001186327.1:p.Leu754Val | |
| NM_001199399.2:c.2101C>G | NP_001186328.1:p.Leu701Val | |
| NM_001199400.2:c.2176C>G | NP_001186329.1:p.Leu726Val | |
| NM_001374418.1:c.2392C>G | NP_001361347.1:p.Leu798Val | |
| NM_001374419.1:c.2308C>G | NP_001361348.1:p.Leu770Val | |
| NM_001374420.1:c.2257C>G | NP_001361349.1:p.Leu753Val | |
| NM_001374421.1:c.2086C>G | NP_001361350.1:p.Leu696Val | |
| NM_012224.3:c.2308C>G | NP_036356.1:p.Leu770Val | |
| NR_164630.1:n.2854C>G | ||
| NM_001199398.3:c.2260C>G | NP_001186327.1:p.Leu754Val | |
| NM_001199399.3:c.2101C>G | NP_001186328.1:p.Leu701Val | |
| NM_001199400.3:c.2176C>G | NP_001186329.1:p.Leu726Val | |
| NM_012224.4:c.2308C>G | NP_036356.1:p.Leu770Val |