Revel Score:
ENST00000486687
0.068
ENST00000350136
0.068
ENST00000392045 (MANE Select)
0.068
ENST00000417495
0.068
ENST00000343805
0.068
ENST00000420434
0.068
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.99172174 (EAS)
Genomes Max Group AF
0.97757399 (AFR)
Exomes Max Group AF
0.99131188 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.230284393G>A , CM000664.2:g.230284393G>A | GRCh38 |
| NC_000002.11:g.231149108G>A , CM000664.1:g.231149108G>A | GRCh37 |
| NC_000002.10:g.230857352G>A | NCBI36 |
| NG_051286.1:g.86470G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392045.8:c.1546G>A MANE Select | ENSP00000375899.3:p.Glu516Lys | |
| ENST00000343805.10:c.1366G>A | ENSP00000342096.6:p.Glu456Lys | |
| ENST00000392045.7:c.1546G>A | ENSP00000375899.3:p.Glu516Lys | |
| ENST00000417495.7:c.1204G>A | ENSP00000393618.3:p.Glu402Lys | |
| ENST00000420434.7:c.1465G>A | ENSP00000398210.3:p.Glu489Lys | |
| ENST00000476126.1:n.158G>A | ||
| NM_001278451.1:c.1465G>A | NP_001265380.1:p.Glu489Lys | |
| NM_001278452.1:c.1366G>A | NP_001265381.1:p.Glu456Lys | |
| NM_001278453.1:c.1204G>A | NP_001265382.1:p.Glu402Lys | |
| NM_007237.4:c.1546G>A | NP_009168.4:p.Glu516Lys | |
| XM_005246252.2:c.1537G>A | XP_005246309.1:p.Glu513Lys | |
| XM_005246253.2:c.1468G>A | XP_005246310.1:p.Glu490Lys | |
| XM_005246254.2:c.1444G>A | XP_005246311.1:p.Glu482Lys | |
| XM_005246255.2:c.1396G>A | XP_005246312.1:p.Glu466Lys | |
| XM_005246256.2:c.1363G>A | XP_005246313.1:p.Glu455Lys | |
| XM_006712223.2:c.1546G>A | XP_006712286.1:p.Glu516Lys | |
| XM_011510515.1:c.1528G>A | XP_011508817.1:p.Glu510Lys | |
| XM_011510516.1:c.1546G>A | XP_011508818.1:p.Glu516Lys | |
| XM_011510517.1:c.1486G>A | XP_011508819.1:p.Glu496Lys | |
| XM_011510518.1:c.1486G>A | XP_011508820.1:p.Glu496Lys | |
| XM_011510519.1:c.1465G>A | XP_011508821.1:p.Glu489Lys | |
| XM_011510520.1:c.1459G>A | XP_011508822.1:p.Glu487Lys | |
| XM_011510521.1:c.1318G>A | XP_011508823.1:p.Glu440Lys | |
| XM_011510522.1:c.1309G>A | XP_011508824.1:p.Glu437Lys | |
| XM_011510523.1:c.1546G>A | XP_011508825.1:p.Glu516Lys | |
| XR_922832.1:n.1625G>A | ||
| XM_006712223.3:c.1546G>A | XP_006712286.1:p.Glu516Lys | |
| XM_011510517.3:c.1486G>A | XP_011508819.1:p.Glu496Lys | |
| XM_011510518.2:c.1486G>A | XP_011508820.1:p.Glu496Lys | |
| XM_017003239.1:c.1519G>A | XP_016858728.1:p.Glu507Lys | |
| XM_017003240.1:c.1450G>A | XP_016858729.1:p.Glu484Lys | |
| XM_017003241.1:c.1447G>A | XP_016858730.1:p.Glu483Lys | |
| XM_017003242.1:c.1441G>A | XP_016858731.1:p.Glu481Lys | |
| XM_017003243.1:c.1435G>A | XP_016858732.1:p.Glu479Lys | |
| XM_017003244.1:c.1408G>A | XP_016858733.1:p.Glu470Lys | |
| XM_017003245.1:c.1387G>A | XP_016858734.1:p.Glu463Lys | |
| XM_017003246.1:c.1378G>A | XP_016858735.1:p.Glu460Lys | |
| XM_017003247.1:c.1357G>A | XP_016858736.1:p.Glu453Lys | |
| XM_017003248.1:c.1354G>A | XP_016858737.1:p.Glu452Lys | |
| XM_017003249.1:c.1285G>A | XP_016858738.1:p.Glu429Lys | |
| XM_017003250.1:c.1276G>A | XP_016858739.1:p.Glu426Lys | |
| XM_017003251.2:c.1225G>A | XP_016858740.1:p.Glu409Lys | |
| XM_017003252.1:c.1213G>A | XP_016858741.1:p.Glu405Lys | |
| XM_017003253.1:c.787G>A | XP_016858742.1:p.Glu263Lys | |
| XR_001738595.1:n.1625G>A | ||
| XR_001738596.1:n.1625G>A | ||
| NM_007237.5:c.1546G>A MANE Select | NP_009168.4:p.Glu516Lys | |
| NM_001278452.2:c.1366G>A | NP_001265381.1:p.Glu456Lys | |
| NM_001278453.2:c.1204G>A | NP_001265382.1:p.Glu402Lys | |
| NM_001278451.2:c.1465G>A | NP_001265380.1:p.Glu489Lys |