Revel Score:
ENST00000260947 (MANE Select)
0.812
ENST00000449967
0.812
ENST00000421162
0.812
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0000624 (AFR)
Genomes Max Group AF
0.00006287 (AFR)
Exomes Max Group AF
0.00002377 (AFR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.214752539G>A , CM000664.2:g.214752539G>A | GRCh38 |
| NC_000002.11:g.215617263G>A , CM000664.1:g.215617263G>A | GRCh37 |
| NC_000002.10:g.215325508G>A | NCBI36 |
| NG_012047.2:g.62166C>T | |
| NG_012047.3:g.62173C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260947.9:c.1585C>T MANE Select | ENSP00000260947.4:p.Arg529Trp | |
| ENST00000421162.2:c.232C>T | ENSP00000392245.2:p.Arg78Trp | |
| ENST00000613192.2:c.159-22031C>T | ENSP00000483275.2:n.159-22031C>T | |
| ENST00000613374.5:c.175C>T | ENSP00000484464.1:p.Arg59Trp | |
| ENST00000613706.5:c.1177C>T | ENSP00000484976.2:p.Arg393Trp | |
| ENST00000617164.5:c.1528C>T | ENSP00000480470.1:p.Arg510Trp | |
| ENST00000619009.5:c.365-22031C>T | ENSP00000482293.1:n.365-22031C>T | |
| ENST00000650978.1:c.2960C>T | ||
| ENST00000260947.8:c.1585C>T | ENSP00000260947.4:p.Arg529Trp | |
| ENST00000421162.1:c.232C>T | ENSP00000392245.1:p.Arg78Trp | |
| ENST00000455743.5:c.*1205C>T | ENSP00000412186.1:n.*1205C>T | |
| ENST00000613192.1:c.74-22031C>T | ENSP00000483275.1:n.74-22031C>T | |
| ENST00000613374.4:c.175C>T | ENSP00000484464.1:p.Arg59Trp | |
| ENST00000613706.4:c.232C>T | ENSP00000484976.1:p.Arg78Trp | |
| ENST00000617164.4:c.1528C>T | ENSP00000480470.1:p.Arg510Trp | |
| ENST00000619009.4:c.365-22031C>T | ENSP00000482293.1:n.365-22031C>T | |
| ENST00000620057.4:c.*251C>T | ENSP00000481988.1:n.*251C>T | |
| NM_000465.3:c.1585C>T | NP_000456.2:p.Arg529Trp | |
| NM_001282543.1:c.1528C>T | NP_001269472.1:p.Arg510Trp | |
| NM_001282545.1:c.232C>T | NP_001269474.1:p.Arg78Trp | |
| NM_001282548.1:c.175C>T | NP_001269477.1:p.Arg59Trp | |
| NM_001282549.1:c.365-22031C>T | NP_001269478.1:n.365-22031C>T | |
| NR_104212.1:n.1578C>T | ||
| NR_104215.1:n.1521C>T | ||
| NR_104216.1:n.777C>T | ||
| XM_011511567.1:c.1531C>T | XP_011509869.1:p.Arg511Trp | |
| XM_011511568.1:c.1585C>T | XP_011509870.1:p.Arg529Trp | |
| XM_017004613.1:c.1684C>T | XP_016860102.1:p.Arg562Trp | |
| XM_017004614.1:c.1684C>T | XP_016860103.1:p.Arg562Trp | |
| XR_002959322.1:n.1775C>T | ||
| NM_000465.4:c.1585C>T MANE Select | NP_000456.2:p.Arg529Trp | |
| NM_001282543.2:c.1528C>T | NP_001269472.1:p.Arg510Trp | |
| NM_001282545.2:c.232C>T | NP_001269474.1:p.Arg78Trp | |
| NM_001282548.2:c.175C>T | NP_001269477.1:p.Arg59Trp | |
| NM_001282549.2:c.365-22031C>T | NP_001269478.1:n.365-22031C>T | |
| NR_104212.2:n.1550C>T | ||
| NR_104215.2:n.1493C>T | ||
| NR_104216.2:n.749C>T |