Revel Score:
ENST00000457016
0.418
ENST00000257430 (MANE Select)
0.418
ENST00000508376
0.418
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112842321A>T , CM000667.2:g.112842321A>T | GRCh38 |
| NC_000005.9:g.112178018A>T , CM000667.1:g.112178018A>T | GRCh37 |
| NC_000005.8:g.112205917A>T | NCBI36 |
| NG_008481.4:g.154801A>T , LRG_130:g.154801A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504915.3:c.6781A>T | ENSP00000473355.2:p.Thr2261Ser | |
| ENST00000505350.2:c.*6733A>T | ENSP00000481752.1:n.*6733A>T | |
| ENST00000507379.6:c.6673A>T | ENSP00000423224.2:p.Thr2225Ser | |
| ENST00000509732.6:c.6727A>T | ENSP00000426541.2:p.Thr2243Ser | |
| ENST00000512211.7:c.6727A>T | ENSP00000423828.3:p.Thr2243Ser | |
| ENST00000257430.9:c.6727A>T MANE Select | ENSP00000257430.4:p.Thr2243Ser | |
| ENST00000257430.8:c.6727A>T | ENSP00000257430.4:p.Thr2243Ser | |
| ENST00000508376.6:c.6727A>T | ENSP00000427089.2:p.Thr2243Ser | |
| ENST00000508624.5:c.*6049A>T | ENSP00000424265.1:n.*6049A>T | |
| ENST00000520401.1:c.230+13349A>T | ||
| NM_000038.5:c.6727A>T | NP_000029.2:p.Thr2243Ser | |
| NM_001127510.2:c.6727A>T | NP_001120982.1:p.Thr2243Ser | |
| NM_001127511.2:c.6673A>T | NP_001120983.2:p.Thr2225Ser | |
| NM_001354895.1:c.6727A>T | NP_001341824.1:p.Thr2243Ser | |
| NM_001354896.1:c.6781A>T | NP_001341825.1:p.Thr2261Ser | |
| NM_001354897.1:c.6757A>T | NP_001341826.1:p.Thr2253Ser | |
| NM_001354898.1:c.6652A>T | NP_001341827.1:p.Thr2218Ser | |
| NM_001354899.1:c.6643A>T | NP_001341828.1:p.Thr2215Ser | |
| NM_001354900.1:c.6604A>T | NP_001341829.1:p.Thr2202Ser | |
| NM_001354901.1:c.6550A>T | NP_001341830.1:p.Thr2184Ser | |
| NM_001354902.1:c.6454A>T | NP_001341831.1:p.Thr2152Ser | |
| NM_001354903.1:c.6424A>T | NP_001341832.1:p.Thr2142Ser | |
| NM_001354904.1:c.6349A>T | NP_001341833.1:p.Thr2117Ser | |
| NM_001354905.1:c.6247A>T | NP_001341834.1:p.Thr2083Ser | |
| NM_001354906.1:c.5878A>T | NP_001341835.1:p.Thr1960Ser | |
| NM_000038.6:c.6727A>T MANE Select | NP_000029.2:p.Thr2243Ser | |
| NM_001127510.3:c.6727A>T | NP_001120982.1:p.Thr2243Ser | |
| NM_001127511.3:c.6673A>T | NP_001120983.2:p.Thr2225Ser | |
| NM_001354895.2:c.6727A>T | NP_001341824.1:p.Thr2243Ser | |
| NM_001354896.2:c.6781A>T | NP_001341825.1:p.Thr2261Ser | |
| NM_001354897.2:c.6757A>T | NP_001341826.1:p.Thr2253Ser | |
| NM_001354898.2:c.6652A>T | NP_001341827.1:p.Thr2218Ser | |
| NM_001354899.2:c.6643A>T | NP_001341828.1:p.Thr2215Ser | |
| NM_001354900.2:c.6604A>T | NP_001341829.1:p.Thr2202Ser | |
| NM_001354901.2:c.6550A>T | NP_001341830.1:p.Thr2184Ser | |
| NM_001354902.2:c.6454A>T | NP_001341831.1:p.Thr2152Ser | |
| NM_001354903.2:c.6424A>T | NP_001341832.1:p.Thr2142Ser | |
| NM_001354904.2:c.6349A>T | NP_001341833.1:p.Thr2117Ser | |
| NM_001354905.2:c.6247A>T | NP_001341834.1:p.Thr2083Ser | |
| NM_001354906.2:c.5878A>T | NP_001341835.1:p.Thr1960Ser |