Revel Score:
ENST00000260947 (MANE Select)
0.192
ENST00000449967
0.192
ENST00000421162
0.192
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.214752454C>A , CM000664.2:g.214752454C>A | GRCh38 |
| NC_000002.11:g.215617178C>A , CM000664.1:g.215617178C>A | GRCh37 |
| NC_000002.10:g.215325423C>A | NCBI36 |
| NG_012047.2:g.62251G>T | |
| NG_012047.3:g.62258G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260947.9:c.1670G>T MANE Select | ENSP00000260947.4:p.Cys557Phe | |
| ENST00000421162.2:c.317G>T | ENSP00000392245.2:p.Cys106Phe | |
| ENST00000613192.2:c.159-21946G>T | ENSP00000483275.2:n.159-21946G>T | |
| ENST00000613374.5:c.260G>T | ENSP00000484464.1:p.Cys87Phe | |
| ENST00000613706.5:c.1262G>T | ENSP00000484976.2:p.Cys421Phe | |
| ENST00000617164.5:c.1613G>T | ENSP00000480470.1:p.Cys538Phe | |
| ENST00000619009.5:c.365-21946G>T | ENSP00000482293.1:n.365-21946G>T | |
| ENST00000650978.1:c.3045G>T | ||
| ENST00000260947.8:c.1670G>T | ENSP00000260947.4:p.Cys557Phe | |
| ENST00000421162.1:c.317G>T | ENSP00000392245.1:p.Cys106Phe | |
| ENST00000455743.5:c.*1290G>T | ENSP00000412186.1:n.*1290G>T | |
| ENST00000465841.1:n.25G>T | ||
| ENST00000613192.1:c.74-21946G>T | ENSP00000483275.1:n.74-21946G>T | |
| ENST00000613374.4:c.260G>T | ENSP00000484464.1:p.Cys87Phe | |
| ENST00000613706.4:c.317G>T | ENSP00000484976.1:p.Cys106Phe | |
| ENST00000617164.4:c.1613G>T | ENSP00000480470.1:p.Cys538Phe | |
| ENST00000619009.4:c.365-21946G>T | ENSP00000482293.1:n.365-21946G>T | |
| ENST00000620057.4:c.*336G>T | ENSP00000481988.1:n.*336G>T | |
| NM_000465.3:c.1670G>T | NP_000456.2:p.Cys557Phe | |
| NM_001282543.1:c.1613G>T | NP_001269472.1:p.Cys538Phe | |
| NM_001282545.1:c.317G>T | NP_001269474.1:p.Cys106Phe | |
| NM_001282548.1:c.260G>T | NP_001269477.1:p.Cys87Phe | |
| NM_001282549.1:c.365-21946G>T | NP_001269478.1:n.365-21946G>T | |
| NR_104212.1:n.1663G>T | ||
| NR_104215.1:n.1606G>T | ||
| NR_104216.1:n.862G>T | ||
| XM_011511567.1:c.1616G>T | XP_011509869.1:p.Cys539Phe | |
| XM_011511568.1:c.1670G>T | XP_011509870.1:p.Cys557Phe | |
| XM_017004613.1:c.1769G>T | XP_016860102.1:p.Cys590Phe | |
| XM_017004614.1:c.1769G>T | XP_016860103.1:p.Cys590Phe | |
| XR_002959322.1:n.1860G>T | ||
| NM_000465.4:c.1670G>T MANE Select | NP_000456.2:p.Cys557Phe | |
| NM_001282543.2:c.1613G>T | NP_001269472.1:p.Cys538Phe | |
| NM_001282545.2:c.317G>T | NP_001269474.1:p.Cys106Phe | |
| NM_001282548.2:c.260G>T | NP_001269477.1:p.Cys87Phe | |
| NM_001282549.2:c.365-21946G>T | NP_001269478.1:n.365-21946G>T | |
| NR_104212.2:n.1635G>T | ||
| NR_104215.2:n.1578G>T | ||
| NR_104216.2:n.834G>T |