Revel Score:
ENST00000370869
0.097
ENST00000259782 (MANE Select)
0.097
ENST00000370864
0.097
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.54321349T>G , CM000668.2:g.54321349T>G | GRCh38 |
| NC_000006.11:g.54186147T>G , CM000668.1:g.54186147T>G | GRCh37 |
| NC_000006.10:g.54294106T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259782.9:c.472T>G MANE Select | ENSP00000259782.4:p.Ser158Ala | |
| ENST00000259782.8:c.472T>G | ENSP00000259782.4:p.Ser158Ala | |
| ENST00000370864.3:c.418T>G | ENSP00000359901.3:p.Ser140Ala | |
| ENST00000370869.7:c.460T>G | ENSP00000359906.3:p.Ser154Ala | |
| ENST00000486436.1:n.534T>G | ||
| NM_014464.3:c.472T>G | NP_055279.3:p.Ser158Ala | |
| XM_006715061.2:c.481T>G | XP_006715124.1:p.Ser161Ala | |
| XM_006715062.2:c.418T>G | XP_006715125.1:p.Ser140Ala | |
| XM_006715063.2:c.481T>G | XP_006715126.1:p.Ser161Ala | |
| XM_011514496.1:c.365-5449T>G | XP_011512798.1:n.365-5449T>G | |
| XM_011514497.1:c.356-5449T>G | XP_011512799.1:n.356-5449T>G | |
| XM_011514498.1:c.256T>G | XP_011512800.1:p.Ser86Ala | |
| XM_011514499.1:c.140-5449T>G | XP_011512801.1:n.140-5449T>G | |
| XR_427828.2:n.514T>G | ||
| XM_011514497.2:c.356-5449T>G | XP_011512799.1:n.356-5449T>G | |
| XM_017010745.1:c.472T>G | XP_016866234.1:p.Ser158Ala | |
| XM_017010746.1:c.247T>G | XP_016866235.1:p.Ser83Ala | |
| XM_017010747.1:c.131-5449T>G | XP_016866236.1:n.131-5449T>G | |
| XM_017010748.1:c.-34T>G | XP_016866237.1:n.-34T>G | |
| XR_001743344.2:n.582T>G | ||
| NM_014464.4:c.472T>G MANE Select | NP_055279.3:p.Ser158Ala |