Revel Score:
ENST00000260947 (MANE Select)
0.158
ENST00000449967
0.158
ENST00000421162
0.158
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.214752455A>T , CM000664.2:g.214752455A>T | GRCh38 |
| NC_000002.11:g.215617179A>T , CM000664.1:g.215617179A>T | GRCh37 |
| NC_000002.10:g.215325424A>T | NCBI36 |
| NG_012047.2:g.62250T>A | |
| NG_012047.3:g.62257T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260947.9:c.1669T>A MANE Select | ENSP00000260947.4:p.Cys557Ser | |
| ENST00000421162.2:c.316T>A | ENSP00000392245.2:p.Cys106Ser | |
| ENST00000613192.2:c.159-21947T>A | ENSP00000483275.2:n.159-21947T>A | |
| ENST00000613374.5:c.259T>A | ENSP00000484464.1:p.Cys87Ser | |
| ENST00000613706.5:c.1261T>A | ENSP00000484976.2:p.Cys421Ser | |
| ENST00000617164.5:c.1612T>A | ENSP00000480470.1:p.Cys538Ser | |
| ENST00000619009.5:c.365-21947T>A | ENSP00000482293.1:n.365-21947T>A | |
| ENST00000650978.1:c.3044T>A | ||
| ENST00000260947.8:c.1669T>A | ENSP00000260947.4:p.Cys557Ser | |
| ENST00000421162.1:c.316T>A | ENSP00000392245.1:p.Cys106Ser | |
| ENST00000455743.5:c.*1289T>A | ENSP00000412186.1:n.*1289T>A | |
| ENST00000465841.1:n.24T>A | ||
| ENST00000613192.1:c.74-21947T>A | ENSP00000483275.1:n.74-21947T>A | |
| ENST00000613374.4:c.259T>A | ENSP00000484464.1:p.Cys87Ser | |
| ENST00000613706.4:c.316T>A | ENSP00000484976.1:p.Cys106Ser | |
| ENST00000617164.4:c.1612T>A | ENSP00000480470.1:p.Cys538Ser | |
| ENST00000619009.4:c.365-21947T>A | ENSP00000482293.1:n.365-21947T>A | |
| ENST00000620057.4:c.*335T>A | ENSP00000481988.1:n.*335T>A | |
| NM_000465.3:c.1669T>A | NP_000456.2:p.Cys557Ser | |
| NM_001282543.1:c.1612T>A | NP_001269472.1:p.Cys538Ser | |
| NM_001282545.1:c.316T>A | NP_001269474.1:p.Cys106Ser | |
| NM_001282548.1:c.259T>A | NP_001269477.1:p.Cys87Ser | |
| NM_001282549.1:c.365-21947T>A | NP_001269478.1:n.365-21947T>A | |
| NR_104212.1:n.1662T>A | ||
| NR_104215.1:n.1605T>A | ||
| NR_104216.1:n.861T>A | ||
| XM_011511567.1:c.1615T>A | XP_011509869.1:p.Cys539Ser | |
| XM_011511568.1:c.1669T>A | XP_011509870.1:p.Cys557Ser | |
| XM_017004613.1:c.1768T>A | XP_016860102.1:p.Cys590Ser | |
| XM_017004614.1:c.1768T>A | XP_016860103.1:p.Cys590Ser | |
| XR_002959322.1:n.1859T>A | ||
| NM_000465.4:c.1669T>A MANE Select | NP_000456.2:p.Cys557Ser | |
| NM_001282543.2:c.1612T>A | NP_001269472.1:p.Cys538Ser | |
| NM_001282545.2:c.316T>A | NP_001269474.1:p.Cys106Ser | |
| NM_001282548.2:c.259T>A | NP_001269477.1:p.Cys87Ser | |
| NM_001282549.2:c.365-21947T>A | NP_001269478.1:n.365-21947T>A | |
| NR_104212.2:n.1634T>A | ||
| NR_104215.2:n.1577T>A | ||
| NR_104216.2:n.833T>A |