Revel Score:
ENST00000439128
0.110
ENST00000511633
0.110
ENST00000510533
0.110
ENST00000507142 (MANE Select)
0.110
ENST00000512193
0.110
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00035033 (SAS)
Exomes Max Group AF
0.00035958 (SAS)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.169577052G>A , CM000666.2:g.169577052G>A | GRCh38 |
| NC_000004.11:g.170498203G>A , CM000666.1:g.170498203G>A | GRCh37 |
| NC_000004.10:g.170734778G>A | NCBI36 |
| NG_027982.1:g.40576C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000505119.2:c.896C>T | ENSP00000421525.2:p.Ser299Leu | |
| ENST00000685111.1:c.812C>T | ENSP00000508844.1:p.Ser271Leu | |
| ENST00000685677.1:n.194C>T | ||
| ENST00000686697.1:c.896C>T | ENSP00000508689.1:p.Ser299Leu | |
| ENST00000687054.1:n.1474C>T | ||
| ENST00000687219.1:c.*534C>T | ENSP00000509736.1:n.*534C>T | |
| ENST00000687528.1:c.896C>T | ENSP00000510228.1:p.Ser299Leu | |
| ENST00000687643.1:c.923C>T | ENSP00000509309.1:p.Ser308Leu | |
| ENST00000688487.1:n.1383+3790C>T | ||
| ENST00000688653.1:n.1473C>T | ||
| ENST00000688934.1:c.-133+34968C>T | ENSP00000510760.1:n.-133+34968C>T | |
| ENST00000690631.1:n.1473C>T | ||
| ENST00000692218.1:n.1550C>T | ||
| ENST00000692450.1:c.*693C>T | ENSP00000510283.1:n.*693C>T | |
| ENST00000692868.1:c.*479C>T | ENSP00000510531.1:n.*479C>T | |
| ENST00000693085.1:c.*723C>T | ENSP00000508746.1:n.*723C>T | |
| ENST00000693604.1:c.896C>T | ENSP00000509917.1:p.Ser299Leu | |
| ENST00000507142.6:c.896C>T MANE Select | ENSP00000424757.2:p.Ser299Leu | |
| ENST00000439128.6:c.896C>T | ENSP00000408020.2:p.Ser299Leu | |
| ENST00000505119.1:c.240C>T | ||
| ENST00000507142.5:c.896C>T | ENSP00000424757.1:p.Ser299Leu | |
| ENST00000509912.5:n.628C>T | ||
| ENST00000510533.5:c.896C>T | ENSP00000427653.1:p.Ser299Leu | |
| ENST00000511633.5:c.896C>T | ENSP00000423332.1:p.Ser299Leu | |
| ENST00000512193.5:c.896C>T | ENSP00000424938.1:p.Ser299Leu | |
| NM_001199397.1:c.896C>T | NP_001186326.1:p.Ser299Leu | |
| NM_001199398.1:c.896C>T | NP_001186327.1:p.Ser299Leu | |
| NM_001199399.1:c.896C>T | NP_001186328.1:p.Ser299Leu | |
| NM_001199400.1:c.896C>T | NP_001186329.1:p.Ser299Leu | |
| NM_012224.2:c.896C>T | NP_036356.1:p.Ser299Leu | |
| XM_006714228.1:c.896C>T | XP_006714291.1:p.Ser299Leu | |
| XM_011532003.1:c.896C>T | XP_011530305.1:p.Ser299Leu | |
| XM_011532004.1:c.896C>T | XP_011530306.1:p.Ser299Leu | |
| XM_011532005.1:c.896C>T | XP_011530307.1:p.Ser299Leu | |
| XM_011532005.2:c.896C>T | XP_011530307.1:p.Ser299Leu | |
| XM_017008249.1:c.275C>T | XP_016863738.1:p.Ser92Leu | |
| XM_017008251.1:c.275C>T | XP_016863740.1:p.Ser92Leu | |
| XM_017008252.2:c.275C>T | XP_016863741.1:p.Ser92Leu | |
| XM_017008253.1:c.-133+3790C>T | XP_016863742.1:n.-133+3790C>T | |
| XM_017008254.1:c.-611C>T | XP_016863743.1:n.-611C>T | |
| XM_024454065.1:c.275C>T | XP_024309833.1:p.Ser92Leu | |
| XR_001741233.1:n.1476C>T | ||
| XR_001741234.2:n.1421C>T | ||
| NM_001199397.3:c.896C>T MANE Select | NP_001186326.1:p.Ser299Leu | |
| NM_001199398.2:c.896C>T | NP_001186327.1:p.Ser299Leu | |
| NM_001199399.2:c.896C>T | NP_001186328.1:p.Ser299Leu | |
| NM_001199400.2:c.896C>T | NP_001186329.1:p.Ser299Leu | |
| NM_001374418.1:c.896C>T | NP_001361347.1:p.Ser299Leu | |
| NM_001374419.1:c.896C>T | NP_001361348.1:p.Ser299Leu | |
| NM_001374420.1:c.896C>T | NP_001361349.1:p.Ser299Leu | |
| NM_001374421.1:c.896C>T | NP_001361350.1:p.Ser299Leu | |
| NM_001374422.1:c.896C>T | NP_001361351.1:p.Ser299Leu | |
| NM_001374423.1:c.896C>T | NP_001361352.1:p.Ser299Leu | |
| NM_012224.3:c.896C>T | NP_036356.1:p.Ser299Leu | |
| NR_164630.1:n.1410C>T | ||
| NR_164631.1:n.1277C>T | ||
| NM_001199398.3:c.896C>T | NP_001186327.1:p.Ser299Leu | |
| NM_001199399.3:c.896C>T | NP_001186328.1:p.Ser299Leu | |
| NM_001199400.3:c.896C>T | NP_001186329.1:p.Ser299Leu | |
| NM_012224.4:c.896C>T | NP_036356.1:p.Ser299Leu |