Revel Score:
ENST00000358402
0.352
ENST00000358664 (MANE Select)
0.352
ENST00000555419
0.352
ENST00000557277
0.352
ENST00000556892
0.352
gnomAD v4:
Joint Max Group AF
0.00000124 (NFE)
Exomes Max Group AF
0.00000132 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.65076639G>A , CM000676.2:g.65076639G>A | GRCh38 |
| NC_000014.8:g.65543357G>A , CM000676.1:g.65543357G>A | GRCh37 |
| NC_000014.7:g.64613110G>A | NCBI36 |
| NG_029830.1:g.30871C>T , LRG_530:g.30871C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000556892.6:c.101C>T | ENSP00000452206.2:p.Ser34Leu | |
| ENST00000556979.6:c.*773C>T | ENSP00000452378.1:n.*773C>T | |
| ENST00000358664.9:c.320C>T MANE Select | ENSP00000351490.4:p.Ser107Leu | |
| ENST00000651648.1:c.145-6270C>T | ENSP00000498863.1:n.145-6270C>T | |
| ENST00000284165.10:c.*1164C>T | ENSP00000284165.6:n.*1164C>T | |
| ENST00000341653.6:c.171+17069C>T | ENSP00000342482.2:n.171+17069C>T | |
| ENST00000358402.8:c.293C>T | ENSP00000351175.4:p.Ser98Leu | |
| ENST00000358664.8:c.320C>T | ENSP00000351490.4:p.Ser107Leu | |
| ENST00000394606.6:c.*93C>T | ENSP00000378104.2:n.*93C>T | |
| ENST00000553928.5:c.*109C>T | ENSP00000451907.1:n.*109C>T | |
| ENST00000555419.5:c.212C>T | ENSP00000452405.1:p.Ser71Leu | |
| ENST00000555932.5:c.61C>T | ENSP00000450763.1:p.Gln21Ter | |
| ENST00000556892.5:c.101C>T | ENSP00000452206.1:p.Ser34Leu | |
| ENST00000557277.5:c.131C>T | ENSP00000450955.1:p.Ser44Leu | |
| ENST00000618858.4:c.*109C>T | ENSP00000480127.1:n.*109C>T | |
| NM_001271069.1:c.144+17069C>T | NP_001257998.1:n.144+17069C>T | |
| NM_002382.4:c.320C>T | NP_002373.3:p.Ser107Leu | |
| NM_145112.2:c.293C>T | NP_660087.1:p.Ser98Leu | |
| NM_145113.2:c.*109C>T | NP_660088.1:n.*109C>T | |
| NM_197957.3:c.171+17069C>T | NP_932061.1:n.171+17069C>T | |
| NR_073137.1:n.444C>T | ||
| XR_429315.2:n.607C>T | ||
| XR_943450.1:n.688C>T | ||
| XR_943451.1:n.704C>T | ||
| XR_943452.1:n.650C>T | ||
| NM_001320415.1:c.131C>T | NP_001307344.1:p.Ser44Leu | |
| XM_017021312.2:c.131C>T | XP_016876801.1:p.Ser44Leu | |
| XM_017021313.1:c.131C>T | XP_016876802.1:p.Ser44Leu | |
| XR_001750326.2:n.665C>T | ||
| XR_001750327.2:n.584C>T | ||
| XR_002957553.1:n.1098C>T | ||
| XR_943450.3:n.688C>T | ||
| XR_943451.3:n.704C>T | ||
| XR_943452.3:n.649C>T | ||
| NM_001320415.2:c.131C>T | NP_001307344.1:p.Ser44Leu | |
| NM_002382.5:c.320C>T MANE Select | NP_002373.3:p.Ser107Leu | |
| NM_145112.3:c.293C>T | NP_660087.1:p.Ser98Leu | |
| NM_145113.3:c.*109C>T | NP_660088.1:n.*109C>T | |
| NM_001271069.2:c.144+17069C>T | NP_001257998.1:n.144+17069C>T | |
| NM_197957.4:c.171+17069C>T | NP_932061.1:n.171+17069C>T |