Revel Score:
ENST00000439128
0.425
ENST00000511633
0.425
ENST00000510533
0.425
ENST00000507142 (MANE Select)
0.425
ENST00000512193
0.425
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00006042 (NFE)
Genomes Max Group AF
0.00001171 (NFE)
Exomes Max Group AF
0.00006148 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.169424635G>A , CM000666.2:g.169424635G>A | GRCh38 |
| NC_000004.11:g.170345786G>A , CM000666.1:g.170345786G>A | GRCh37 |
| NC_000004.10:g.170582361G>A | NCBI36 |
| NG_027982.1:g.192993C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000685111.1:c.2972C>T | ENSP00000508844.1:p.Ser991Leu | |
| ENST00000685677.1:n.2438C>T | ||
| ENST00000686697.1:c.2657C>T | ENSP00000508689.1:p.Ser886Leu | |
| ENST00000687054.1:n.3634C>T | ||
| ENST00000687528.1:c.*1875C>T | ENSP00000510228.1:n.*1875C>T | |
| ENST00000687643.1:c.3083C>T | ENSP00000509309.1:p.Ser1028Leu | |
| ENST00000688934.1:c.1163C>T | ENSP00000510760.1:p.Ser388Leu | |
| ENST00000690540.1:n.2590C>T | ||
| ENST00000507142.6:c.3140C>T MANE Select | ENSP00000424757.2:p.Ser1047Leu | |
| ENST00000638824.1:n.1268C>T | ||
| ENST00000439128.6:c.3056C>T | ENSP00000408020.2:p.Ser1019Leu | |
| ENST00000507142.5:c.3140C>T | ENSP00000424757.1:p.Ser1047Leu | |
| ENST00000510533.5:c.2924C>T | ENSP00000427653.1:p.Ser975Leu | |
| ENST00000511633.5:c.3008C>T | ENSP00000423332.1:p.Ser1003Leu | |
| ENST00000512193.5:c.2849C>T | ENSP00000424938.1:p.Ser950Leu | |
| NM_001199397.1:c.3140C>T | NP_001186326.1:p.Ser1047Leu | |
| NM_001199398.1:c.3008C>T | NP_001186327.1:p.Ser1003Leu | |
| NM_001199399.1:c.2849C>T | NP_001186328.1:p.Ser950Leu | |
| NM_001199400.1:c.2924C>T | NP_001186329.1:p.Ser975Leu | |
| NM_012224.2:c.3056C>T | NP_036356.1:p.Ser1019Leu | |
| XM_006714228.1:c.2963C>T | XP_006714291.1:p.Ser988Leu | |
| XM_011532003.1:c.3056C>T | XP_011530305.1:p.Ser1019Leu | |
| XM_011532004.1:c.2924C>T | XP_011530306.1:p.Ser975Leu | |
| XM_017008249.1:c.2519C>T | XP_016863738.1:p.Ser840Leu | |
| XM_017008251.1:c.2435C>T | XP_016863740.1:p.Ser812Leu | |
| XM_017008252.2:c.2435C>T | XP_016863741.1:p.Ser812Leu | |
| XM_017008253.1:c.1988C>T | XP_016863742.1:p.Ser663Leu | |
| XM_017008254.1:c.1784C>T | XP_016863743.1:p.Ser595Leu | |
| XM_024454065.1:c.2519C>T | XP_024309833.1:p.Ser840Leu | |
| XR_001741233.1:n.3425C>T | ||
| NM_001199397.3:c.3140C>T MANE Select | NP_001186326.1:p.Ser1047Leu | |
| NM_001199398.2:c.3008C>T | NP_001186327.1:p.Ser1003Leu | |
| NM_001199399.2:c.2849C>T | NP_001186328.1:p.Ser950Leu | |
| NM_001199400.2:c.2924C>T | NP_001186329.1:p.Ser975Leu | |
| NM_001374418.1:c.3140C>T | NP_001361347.1:p.Ser1047Leu | |
| NM_001374419.1:c.3056C>T | NP_001361348.1:p.Ser1019Leu | |
| NM_001374420.1:c.3005C>T | NP_001361349.1:p.Ser1002Leu | |
| NM_001374421.1:c.2657C>T | NP_001361350.1:p.Ser886Leu | |
| NM_012224.3:c.3056C>T | NP_036356.1:p.Ser1019Leu | |
| NR_164630.1:n.3602C>T | ||
| NM_001199398.3:c.3008C>T | NP_001186327.1:p.Ser1003Leu | |
| NM_001199399.3:c.2849C>T | NP_001186328.1:p.Ser950Leu | |
| NM_001199400.3:c.2924C>T | NP_001186329.1:p.Ser975Leu | |
| NM_012224.4:c.3056C>T | NP_036356.1:p.Ser1019Leu |