Revel Score:
ENST00000260947 (MANE Select)
0.089
ENST00000449967
0.089
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001064 (AFR)
Genomes Max Group AF
0.000008 (AFR)
Exomes Max Group AF
0.00000652 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.214780658G>C , CM000664.2:g.214780658G>C | GRCh38 |
| NC_000002.11:g.215645382G>C , CM000664.1:g.215645382G>C | GRCh37 |
| NC_000002.10:g.215353627G>C | NCBI36 |
| NG_012047.2:g.34047C>G | |
| NG_012047.3:g.34054C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260947.9:c.1216C>G MANE Select | ENSP00000260947.4:p.Arg406Gly | |
| ENST00000421162.2:c.215+16403C>G | ENSP00000392245.2:n.215+16403C>G | |
| ENST00000613192.2:c.158+28754C>G | ENSP00000483275.2:n.158+28754C>G | |
| ENST00000613374.5:c.159-28103C>G | ENSP00000484464.1:n.159-28103C>G | |
| ENST00000613706.5:c.906+310C>G | ENSP00000484976.2:n.906+310C>G | |
| ENST00000617164.5:c.1159C>G | ENSP00000480470.1:p.Arg387Gly | |
| ENST00000619009.5:c.364+11639C>G | ENSP00000482293.1:n.364+11639C>G | |
| ENST00000650978.1:c.1058C>G | ||
| ENST00000260947.8:c.1216C>G | ENSP00000260947.4:p.Arg406Gly | |
| ENST00000421162.1:c.215+16403C>G | ENSP00000392245.1:n.215+16403C>G | |
| ENST00000455743.5:c.*836C>G | ENSP00000412186.1:n.*836C>G | |
| ENST00000613192.1:c.73+28754C>G | ENSP00000483275.1:n.73+28754C>G | |
| ENST00000613374.4:c.159-28103C>G | ENSP00000484464.1:n.159-28103C>G | |
| ENST00000613706.4:c.215+16403C>G | ENSP00000484976.1:n.215+16403C>G | |
| ENST00000617164.4:c.1159C>G | ENSP00000480470.1:p.Arg387Gly | |
| ENST00000619009.4:c.364+11639C>G | ENSP00000482293.1:n.364+11639C>G | |
| ENST00000620057.4:c.365-11346C>G | ENSP00000481988.1:n.365-11346C>G | |
| NM_000465.3:c.1216C>G | NP_000456.2:p.Arg406Gly | |
| NM_001282543.1:c.1159C>G | NP_001269472.1:p.Arg387Gly | |
| NM_001282545.1:c.215+16403C>G | NP_001269474.1:n.215+16403C>G | |
| NM_001282548.1:c.159-28103C>G | NP_001269477.1:n.159-28103C>G | |
| NM_001282549.1:c.364+11639C>G | NP_001269478.1:n.364+11639C>G | |
| NR_104212.1:n.1209C>G | ||
| NR_104215.1:n.1152C>G | ||
| NR_104216.1:n.507-11346C>G | ||
| XM_011511567.1:c.1162C>G | XP_011509869.1:p.Arg388Gly | |
| XM_011511568.1:c.1216C>G | XP_011509870.1:p.Arg406Gly | |
| XM_017004613.1:c.1315C>G | XP_016860102.1:p.Arg439Gly | |
| XM_017004614.1:c.1315C>G | XP_016860103.1:p.Arg439Gly | |
| XR_002959322.1:n.1406C>G | ||
| NM_000465.4:c.1216C>G MANE Select | NP_000456.2:p.Arg406Gly | |
| NM_001282543.2:c.1159C>G | NP_001269472.1:p.Arg387Gly | |
| NM_001282545.2:c.215+16403C>G | NP_001269474.1:n.215+16403C>G | |
| NM_001282548.2:c.159-28103C>G | NP_001269477.1:n.159-28103C>G | |
| NM_001282549.2:c.364+11639C>G | NP_001269478.1:n.364+11639C>G | |
| NR_104212.2:n.1181C>G | ||
| NR_104215.2:n.1124C>G | ||
| NR_104216.2:n.479-11346C>G |