Revel Score:
ENST00000257570 (MANE Select)
0.067
ENST00000339275
0.067
ENST00000543677
0.022
ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.121031561C>A , CM000674.2:g.121031561C>A | GRCh38 |
| NC_000012.11:g.121469364C>A , CM000674.1:g.121469364C>A | GRCh37 |
| NC_000012.10:g.119953747C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000257570.10:c.538G>T MANE Select | ENSP00000257570.4:p.Ala180Ser | |
| ENST00000339275.10:c.538G>T | ENSP00000341125.5:p.Ala180Ser | |
| ENST00000543677.2:c.538G>T | ENSP00000444127.2:p.Ala180Ser | |
| ENST00000620239.5:c.538G>T | ENSP00000479512.1:p.Ala180Ser | |
| ENST00000679358.1:c.*12G>T | ENSP00000505125.1:n.*12G>T | |
| ENST00000679655.1:c.538G>T | ENSP00000506490.1:p.Ala180Ser | |
| ENST00000680485.1:c.*12G>T | ENSP00000506721.1:n.*12G>T | |
| ENST00000680620.1:c.538G>T | ENSP00000505685.1:p.Ala180Ser | |
| ENST00000680750.1:n.1082G>T | ||
| ENST00000681590.1:c.*12G>T | ENSP00000506074.1:n.*12G>T | |
| ENST00000257570.9:c.538G>T | ENSP00000257570.4:p.Ala180Ser | |
| ENST00000339275.9:c.538G>T | ENSP00000341125.5:p.Ala180Ser | |
| ENST00000543677.1:c.231G>T | ||
| ENST00000620239.4:c.538G>T | ENSP00000479512.1:p.Ala180Ser | |
| NM_001261825.1:c.538G>T | NP_001248754.1:p.Ala180Ser | |
| NM_003733.3:c.538G>T | NP_003724.1:p.Ala180Ser | |
| NM_198213.2:c.538G>T | NP_937856.1:p.Ala180Ser | |
| XM_017020140.1:c.538G>T | XP_016875629.1:p.Ala180Ser | |
| XM_017020141.1:c.538G>T | XP_016875630.1:p.Ala180Ser | |
| NM_001261825.2:c.538G>T | NP_001248754.1:p.Ala180Ser | |
| NM_001395418.1:c.538G>T | NP_001382347.1:p.Ala180Ser | |
| NM_001395419.1:c.538G>T | NP_001382348.1:p.Ala180Ser | |
| NM_003733.4:c.538G>T MANE Select | NP_003724.1:p.Ala180Ser | |
| NM_198213.3:c.538G>T | NP_937856.1:p.Ala180Ser |