Revel Score:
ENST00000265074 (MANE Select)
0.661
ENST00000415167
0.661
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.32712218T>C , CM000667.2:g.32712218T>C | GRCh38 |
| NC_000005.9:g.32712324T>C , CM000667.1:g.32712324T>C | GRCh37 |
| NC_000005.8:g.32748081T>C | NCBI36 |
| NG_028162.1:g.6582T>C | |
| NG_028162.2:g.28143T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265074.13:c.442T>C MANE Select | ENSP00000265074.8:p.Ser148Pro | |
| ENST00000265074.12:c.442T>C | ENSP00000265074.8:p.Ser148Pro | |
| ENST00000326958.5:c.121+1435T>C | ENSP00000318340.2:n.121+1435T>C | |
| ENST00000415167.2:c.442T>C | ENSP00000398028.2:p.Ser148Pro | |
| ENST00000434067.6:c.121+1435T>C | ENSP00000388408.2:n.121+1435T>C | |
| ENST00000506712.1:n.130+1435T>C | ||
| ENST00000509104.5:c.101-12480T>C | ENSP00000425325.1:n.101-12480T>C | |
| NM_000908.3:c.442T>C | NP_000899.1:p.Ser148Pro | |
| NM_001204375.1:c.442T>C | NP_001191304.1:p.Ser148Pro | |
| NM_001204376.1:c.121+1435T>C | NP_001191305.1:n.121+1435T>C | |
| XM_005248309.1:c.121+1435T>C | XP_005248366.1:n.121+1435T>C | |
| XM_005248310.2:c.442T>C | XP_005248367.1:p.Ser148Pro | |
| XM_011514047.1:c.101-12480T>C | XP_011512349.1:n.101-12480T>C | |
| XM_011514048.1:c.50-12480T>C | XP_011512350.1:n.50-12480T>C | |
| XM_011514049.1:c.-8-12480T>C | XP_011512351.1:n.-8-12480T>C | |
| XM_011514050.1:c.442T>C | XP_011512352.1:p.Ser148Pro | |
| NM_001363652.1:c.121+1435T>C | NP_001350581.1:n.121+1435T>C | |
| NM_001364458.1:c.50-12480T>C | NP_001351387.1:n.50-12480T>C | |
| NM_001364460.1:c.121+1435T>C | NP_001351389.1:n.121+1435T>C | |
| XM_011514047.2:c.101-12480T>C | XP_011512349.1:n.101-12480T>C | |
| XM_011514049.3:c.-8-12480T>C | XP_011512351.1:n.-8-12480T>C | |
| XM_011514050.2:c.442T>C | XP_011512352.1:p.Ser148Pro | |
| XM_017009492.2:c.442T>C | XP_016864981.1:p.Ser148Pro | |
| NM_001204375.2:c.442T>C MANE Select | NP_001191304.1:p.Ser148Pro | |
| NM_000908.4:c.442T>C | NP_000899.1:p.Ser148Pro | |
| NM_001363652.2:c.121+1435T>C | NP_001350581.1:n.121+1435T>C | |
| NM_001364458.2:c.50-12480T>C | NP_001351387.1:n.50-12480T>C | |
| NM_001364460.2:c.121+1435T>C | NP_001351389.1:n.121+1435T>C | |
| NM_001204376.2:c.121+1435T>C | NP_001191305.1:n.121+1435T>C |