Revel Score:
ENST00000260947 (MANE Select)
0.085
ENST00000449967
0.085
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00021821 (NFE)
Genomes Max Group AF
0.00035403 (NFE)
Exomes Max Group AF
0.00020358 (NFE)
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.214781206T>C , CM000664.2:g.214781206T>C | GRCh38 |
| NC_000002.11:g.215645930T>C , CM000664.1:g.215645930T>C | GRCh37 |
| NC_000002.10:g.215354175T>C | NCBI36 |
| NG_012047.2:g.33499A>G | |
| NG_012047.3:g.33506A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260947.9:c.668A>G MANE Select | ENSP00000260947.4:p.Glu223Gly | |
| ENST00000421162.2:c.215+15855A>G | ENSP00000392245.2:n.215+15855A>G | |
| ENST00000613192.2:c.158+28206A>G | ENSP00000483275.2:n.158+28206A>G | |
| ENST00000613374.5:c.158+28206A>G | ENSP00000484464.1:n.158+28206A>G | |
| ENST00000613706.5:c.668A>G | ENSP00000484976.2:p.Glu223Gly | |
| ENST00000617164.5:c.611A>G | ENSP00000480470.1:p.Glu204Gly | |
| ENST00000619009.5:c.364+11091A>G | ENSP00000482293.1:n.364+11091A>G | |
| ENST00000650978.1:c.510A>G | ||
| ENST00000260947.8:c.668A>G | ENSP00000260947.4:p.Glu223Gly | |
| ENST00000421162.1:c.215+15855A>G | ENSP00000392245.1:n.215+15855A>G | |
| ENST00000455743.5:c.*288A>G | ENSP00000412186.1:n.*288A>G | |
| ENST00000471787.1:n.563A>G | ||
| ENST00000613192.1:c.73+28206A>G | ENSP00000483275.1:n.73+28206A>G | |
| ENST00000613374.4:c.158+28206A>G | ENSP00000484464.1:n.158+28206A>G | |
| ENST00000613706.4:c.215+15855A>G | ENSP00000484976.1:n.215+15855A>G | |
| ENST00000617164.4:c.611A>G | ENSP00000480470.1:p.Glu204Gly | |
| ENST00000619009.4:c.364+11091A>G | ENSP00000482293.1:n.364+11091A>G | |
| ENST00000620057.4:c.364+11091A>G | ENSP00000481988.1:n.364+11091A>G | |
| NM_000465.3:c.668A>G | NP_000456.2:p.Glu223Gly | |
| NM_001282543.1:c.611A>G | NP_001269472.1:p.Glu204Gly | |
| NM_001282545.1:c.215+15855A>G | NP_001269474.1:n.215+15855A>G | |
| NM_001282548.1:c.158+28206A>G | NP_001269477.1:n.158+28206A>G | |
| NM_001282549.1:c.364+11091A>G | NP_001269478.1:n.364+11091A>G | |
| NR_104212.1:n.661A>G | ||
| NR_104215.1:n.604A>G | ||
| NR_104216.1:n.506+11091A>G | ||
| XM_011511567.1:c.614A>G | XP_011509869.1:p.Glu205Gly | |
| XM_011511568.1:c.668A>G | XP_011509870.1:p.Glu223Gly | |
| XM_017004613.1:c.767A>G | XP_016860102.1:p.Glu256Gly | |
| XM_017004614.1:c.767A>G | XP_016860103.1:p.Glu256Gly | |
| XR_002959322.1:n.858A>G | ||
| NM_000465.4:c.668A>G MANE Select | NP_000456.2:p.Glu223Gly | |
| NM_001282543.2:c.611A>G | NP_001269472.1:p.Glu204Gly | |
| NM_001282545.2:c.215+15855A>G | NP_001269474.1:n.215+15855A>G | |
| NM_001282548.2:c.158+28206A>G | NP_001269477.1:n.158+28206A>G | |
| NM_001282549.2:c.364+11091A>G | NP_001269478.1:n.364+11091A>G | |
| NR_104212.2:n.633A>G | ||
| NR_104215.2:n.576A>G | ||
| NR_104216.2:n.478+11091A>G |