Revel Score:
ENST00000260947 (MANE Select)
0.025
ENST00000432456
0.025
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.214728951G>A , CM000664.2:g.214728951G>A | GRCh38 |
| NC_000002.11:g.215593675G>A , CM000664.1:g.215593675G>A | GRCh37 |
| NC_000002.10:g.215301920G>A | NCBI36 |
| NG_012047.2:g.85754C>T | |
| NG_012047.3:g.85761C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260947.9:c.2059C>T MANE Select | ENSP00000260947.4:p.Pro687Ser | |
| ENST00000421162.2:c.706C>T | ENSP00000392245.2:p.Pro236Ser | |
| ENST00000613192.2:c.*122C>T | ENSP00000483275.2:n.*122C>T | |
| ENST00000613374.5:c.649C>T | ENSP00000484464.1:p.Pro217Ser | |
| ENST00000613706.5:c.1651C>T | ENSP00000484976.2:p.Pro551Ser | |
| ENST00000617164.5:c.2002C>T | ENSP00000480470.1:p.Pro668Ser | |
| ENST00000619009.5:c.520C>T | ENSP00000482293.1:p.Pro174Ser | |
| ENST00000650978.1:c.3434C>T | ||
| ENST00000260947.8:c.2059C>T | ENSP00000260947.4:p.Pro687Ser | |
| ENST00000432456.5:c.202C>T | ||
| ENST00000455743.5:c.*1679C>T | ENSP00000412186.1:n.*1679C>T | |
| ENST00000471590.5:n.394C>T | ||
| ENST00000613192.1:c.229C>T | ENSP00000483275.1:p.Pro77Ser | |
| ENST00000613374.4:c.649C>T | ENSP00000484464.1:p.Pro217Ser | |
| ENST00000613706.4:c.706C>T | ENSP00000484976.1:p.Pro236Ser | |
| ENST00000617164.4:c.2002C>T | ENSP00000480470.1:p.Pro668Ser | |
| ENST00000619009.4:c.520C>T | ENSP00000482293.1:p.Pro174Ser | |
| ENST00000620057.4:c.*725C>T | ENSP00000481988.1:n.*725C>T | |
| NM_000465.3:c.2059C>T | NP_000456.2:p.Pro687Ser | |
| NM_001282543.1:c.2002C>T | NP_001269472.1:p.Pro668Ser | |
| NM_001282545.1:c.706C>T | NP_001269474.1:p.Pro236Ser | |
| NM_001282548.1:c.649C>T | NP_001269477.1:p.Pro217Ser | |
| NM_001282549.1:c.520C>T | NP_001269478.1:p.Pro174Ser | |
| NR_104212.1:n.2052C>T | ||
| NR_104215.1:n.1995C>T | ||
| NR_104216.1:n.1251C>T | ||
| XM_011511567.1:c.2005C>T | XP_011509869.1:p.Pro669Ser | |
| XM_017004613.1:c.2158C>T | XP_016860102.1:p.Pro720Ser | |
| XR_002959322.1:n.2425C>T | ||
| NM_000465.4:c.2059C>T MANE Select | NP_000456.2:p.Pro687Ser | |
| NM_001282543.2:c.2002C>T | NP_001269472.1:p.Pro668Ser | |
| NM_001282545.2:c.706C>T | NP_001269474.1:p.Pro236Ser | |
| NM_001282548.2:c.649C>T | NP_001269477.1:p.Pro217Ser | |
| NM_001282549.2:c.520C>T | NP_001269478.1:p.Pro174Ser | |
| NR_104212.2:n.2024C>T | ||
| NR_104215.2:n.1967C>T | ||
| NR_104216.2:n.1223C>T |