Revel Score:
ENST00000260947 (MANE Select)
0.053
ENST00000432456
0.053
ENST00000449967
0.107
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000183 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
8.4e-7 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.214728959T>C , CM000664.2:g.214728959T>C | GRCh38 |
| NC_000002.11:g.215593683T>C , CM000664.1:g.215593683T>C | GRCh37 |
| NC_000002.10:g.215301928T>C | NCBI36 |
| NG_012047.2:g.85746A>G | |
| NG_012047.3:g.85753A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260947.9:c.2051A>G MANE Select | ENSP00000260947.4:p.Lys684Arg | |
| ENST00000421162.2:c.698A>G | ENSP00000392245.2:p.Lys233Arg | |
| ENST00000613192.2:c.*114A>G | ENSP00000483275.2:n.*114A>G | |
| ENST00000613374.5:c.641A>G | ENSP00000484464.1:p.Lys214Arg | |
| ENST00000613706.5:c.1643A>G | ENSP00000484976.2:p.Lys548Arg | |
| ENST00000617164.5:c.1994A>G | ENSP00000480470.1:p.Lys665Arg | |
| ENST00000619009.5:c.512A>G | ENSP00000482293.1:p.Lys171Arg | |
| ENST00000650978.1:c.3426A>G | ||
| ENST00000260947.8:c.2051A>G | ENSP00000260947.4:p.Lys684Arg | |
| ENST00000432456.5:c.194A>G | ||
| ENST00000455743.5:c.*1671A>G | ENSP00000412186.1:n.*1671A>G | |
| ENST00000471590.5:n.386A>G | ||
| ENST00000613192.1:c.221A>G | ENSP00000483275.1:p.Lys74Arg | |
| ENST00000613374.4:c.641A>G | ENSP00000484464.1:p.Lys214Arg | |
| ENST00000613706.4:c.698A>G | ENSP00000484976.1:p.Lys233Arg | |
| ENST00000617164.4:c.1994A>G | ENSP00000480470.1:p.Lys665Arg | |
| ENST00000619009.4:c.512A>G | ENSP00000482293.1:p.Lys171Arg | |
| ENST00000620057.4:c.*717A>G | ENSP00000481988.1:n.*717A>G | |
| NM_000465.3:c.2051A>G | NP_000456.2:p.Lys684Arg | |
| NM_001282543.1:c.1994A>G | NP_001269472.1:p.Lys665Arg | |
| NM_001282545.1:c.698A>G | NP_001269474.1:p.Lys233Arg | |
| NM_001282548.1:c.641A>G | NP_001269477.1:p.Lys214Arg | |
| NM_001282549.1:c.512A>G | NP_001269478.1:p.Lys171Arg | |
| NR_104212.1:n.2044A>G | ||
| NR_104215.1:n.1987A>G | ||
| NR_104216.1:n.1243A>G | ||
| XM_011511567.1:c.1997A>G | XP_011509869.1:p.Lys666Arg | |
| XM_017004613.1:c.2150A>G | XP_016860102.1:p.Lys717Arg | |
| XR_002959322.1:n.2417A>G | ||
| NM_000465.4:c.2051A>G MANE Select | NP_000456.2:p.Lys684Arg | |
| NM_001282543.2:c.1994A>G | NP_001269472.1:p.Lys665Arg | |
| NM_001282545.2:c.698A>G | NP_001269474.1:p.Lys233Arg | |
| NM_001282548.2:c.641A>G | NP_001269477.1:p.Lys214Arg | |
| NM_001282549.2:c.512A>G | NP_001269478.1:p.Lys171Arg | |
| NR_104212.2:n.2016A>G | ||
| NR_104215.2:n.1959A>G | ||
| NR_104216.2:n.1215A>G |