Revel Score:
ENST00000486687
0.022
ENST00000350136
0.022
ENST00000392045 (MANE Select)
0.022
ENST00000417495
0.022
ENST00000343805
0.022
ENST00000420434
0.022
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.230284393G>C , CM000664.2:g.230284393G>C | GRCh38 |
| NC_000002.11:g.231149108G>C , CM000664.1:g.231149108G>C | GRCh37 |
| NC_000002.10:g.230857352G>C | NCBI36 |
| NG_051286.1:g.86470G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392045.8:c.1546G>C MANE Select | ENSP00000375899.3:p.Glu516Gln | |
| ENST00000343805.10:c.1366G>C | ENSP00000342096.6:p.Glu456Gln | |
| ENST00000392045.7:c.1546G>C | ENSP00000375899.3:p.Glu516Gln | |
| ENST00000417495.7:c.1204G>C | ENSP00000393618.3:p.Glu402Gln | |
| ENST00000420434.7:c.1465G>C | ENSP00000398210.3:p.Glu489Gln | |
| ENST00000476126.1:n.158G>C | ||
| NM_001278451.1:c.1465G>C | NP_001265380.1:p.Glu489Gln | |
| NM_001278452.1:c.1366G>C | NP_001265381.1:p.Glu456Gln | |
| NM_001278453.1:c.1204G>C | NP_001265382.1:p.Glu402Gln | |
| NM_007237.4:c.1546G>C | NP_009168.4:p.Glu516Gln | |
| XM_005246252.2:c.1537G>C | XP_005246309.1:p.Glu513Gln | |
| XM_005246253.2:c.1468G>C | XP_005246310.1:p.Glu490Gln | |
| XM_005246254.2:c.1444G>C | XP_005246311.1:p.Glu482Gln | |
| XM_005246255.2:c.1396G>C | XP_005246312.1:p.Glu466Gln | |
| XM_005246256.2:c.1363G>C | XP_005246313.1:p.Glu455Gln | |
| XM_006712223.2:c.1546G>C | XP_006712286.1:p.Glu516Gln | |
| XM_011510515.1:c.1528G>C | XP_011508817.1:p.Glu510Gln | |
| XM_011510516.1:c.1546G>C | XP_011508818.1:p.Glu516Gln | |
| XM_011510517.1:c.1486G>C | XP_011508819.1:p.Glu496Gln | |
| XM_011510518.1:c.1486G>C | XP_011508820.1:p.Glu496Gln | |
| XM_011510519.1:c.1465G>C | XP_011508821.1:p.Glu489Gln | |
| XM_011510520.1:c.1459G>C | XP_011508822.1:p.Glu487Gln | |
| XM_011510521.1:c.1318G>C | XP_011508823.1:p.Glu440Gln | |
| XM_011510522.1:c.1309G>C | XP_011508824.1:p.Glu437Gln | |
| XM_011510523.1:c.1546G>C | XP_011508825.1:p.Glu516Gln | |
| XR_922832.1:n.1625G>C | ||
| XM_006712223.3:c.1546G>C | XP_006712286.1:p.Glu516Gln | |
| XM_011510517.3:c.1486G>C | XP_011508819.1:p.Glu496Gln | |
| XM_011510518.2:c.1486G>C | XP_011508820.1:p.Glu496Gln | |
| XM_017003239.1:c.1519G>C | XP_016858728.1:p.Glu507Gln | |
| XM_017003240.1:c.1450G>C | XP_016858729.1:p.Glu484Gln | |
| XM_017003241.1:c.1447G>C | XP_016858730.1:p.Glu483Gln | |
| XM_017003242.1:c.1441G>C | XP_016858731.1:p.Glu481Gln | |
| XM_017003243.1:c.1435G>C | XP_016858732.1:p.Glu479Gln | |
| XM_017003244.1:c.1408G>C | XP_016858733.1:p.Glu470Gln | |
| XM_017003245.1:c.1387G>C | XP_016858734.1:p.Glu463Gln | |
| XM_017003246.1:c.1378G>C | XP_016858735.1:p.Glu460Gln | |
| XM_017003247.1:c.1357G>C | XP_016858736.1:p.Glu453Gln | |
| XM_017003248.1:c.1354G>C | XP_016858737.1:p.Glu452Gln | |
| XM_017003249.1:c.1285G>C | XP_016858738.1:p.Glu429Gln | |
| XM_017003250.1:c.1276G>C | XP_016858739.1:p.Glu426Gln | |
| XM_017003251.2:c.1225G>C | XP_016858740.1:p.Glu409Gln | |
| XM_017003252.1:c.1213G>C | XP_016858741.1:p.Glu405Gln | |
| XM_017003253.1:c.787G>C | XP_016858742.1:p.Glu263Gln | |
| XR_001738595.1:n.1625G>C | ||
| XR_001738596.1:n.1625G>C | ||
| NM_007237.5:c.1546G>C MANE Select | NP_009168.4:p.Glu516Gln | |
| NM_001278452.2:c.1366G>C | NP_001265381.1:p.Glu456Gln | |
| NM_001278453.2:c.1204G>C | NP_001265382.1:p.Glu402Gln | |
| NM_001278451.2:c.1465G>C | NP_001265380.1:p.Glu489Gln |