Revel Score:
ENST00000432456
0.199
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.214730508C>T , CM000664.2:g.214730508C>T | GRCh38 |
| NC_000002.11:g.215595232C>T , CM000664.1:g.215595232C>T | GRCh37 |
| NC_000002.10:g.215303477C>T | NCBI36 |
| NG_012047.2:g.84197G>A | |
| NG_012047.3:g.84204G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260947.9:c.1904G>A MANE Select | ENSP00000260947.4:p.Trp635Ter | |
| ENST00000421162.2:c.551G>A | ENSP00000392245.2:p.Trp184Ter | |
| ENST00000613192.2:c.159G>A | ENSP00000483275.2:p.Trp53Ter | |
| ENST00000613374.5:c.494G>A | ENSP00000484464.1:p.Trp165Ter | |
| ENST00000613706.5:c.1496G>A | ENSP00000484976.2:p.Trp499Ter | |
| ENST00000617164.5:c.1847G>A | ENSP00000480470.1:p.Trp616Ter | |
| ENST00000619009.5:c.365G>A | ENSP00000482293.1:p.Gly122Glu | |
| ENST00000650978.1:c.3279G>A | ||
| ENST00000260947.8:c.1904G>A | ENSP00000260947.4:p.Trp635Ter | |
| ENST00000421162.1:c.551G>A | ENSP00000392245.1:p.Trp184Ter | |
| ENST00000432456.5:c.1G>A | ||
| ENST00000455743.5:c.*1524G>A | ENSP00000412186.1:n.*1524G>A | |
| ENST00000471590.5:n.239G>A | ||
| ENST00000613192.1:c.74G>A | ENSP00000483275.1:p.Gly25Glu | |
| ENST00000613374.4:c.494G>A | ENSP00000484464.1:p.Trp165Ter | |
| ENST00000613706.4:c.551G>A | ENSP00000484976.1:p.Trp184Ter | |
| ENST00000617164.4:c.1847G>A | ENSP00000480470.1:p.Trp616Ter | |
| ENST00000619009.4:c.365G>A | ENSP00000482293.1:p.Gly122Glu | |
| ENST00000620057.4:c.*570G>A | ENSP00000481988.1:n.*570G>A | |
| NM_000465.3:c.1904G>A | NP_000456.2:p.Trp635Ter | |
| NM_001282543.1:c.1847G>A | NP_001269472.1:p.Trp616Ter | |
| NM_001282545.1:c.551G>A | NP_001269474.1:p.Trp184Ter | |
| NM_001282548.1:c.494G>A | NP_001269477.1:p.Trp165Ter | |
| NM_001282549.1:c.365G>A | NP_001269478.1:p.Gly122Glu | |
| NR_104212.1:n.1897G>A | ||
| NR_104215.1:n.1840G>A | ||
| NR_104216.1:n.1096G>A | ||
| XM_011511567.1:c.1850G>A | XP_011509869.1:p.Trp617Ter | |
| XM_017004613.1:c.2003G>A | XP_016860102.1:p.Trp668Ter | |
| XR_002959322.1:n.2094G>A | ||
| NM_000465.4:c.1904G>A MANE Select | NP_000456.2:p.Trp635Ter | |
| NM_001282543.2:c.1847G>A | NP_001269472.1:p.Trp616Ter | |
| NM_001282545.2:c.551G>A | NP_001269474.1:p.Trp184Ter | |
| NM_001282548.2:c.494G>A | NP_001269477.1:p.Trp165Ter | |
| NM_001282549.2:c.365G>A | NP_001269478.1:p.Gly122Glu | |
| NR_104212.2:n.1869G>A | ||
| NR_104215.2:n.1812G>A | ||
| NR_104216.2:n.1068G>A |