Revel Score:
ENST00000340645
0.066
ENST00000393667
0.066
ENST00000494517
0.066
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.121696763G>C , CM000665.2:g.121696763G>C | GRCh38 |
| NC_000003.11:g.121415610G>C , CM000665.1:g.121415610G>C | GRCh37 |
| NC_000003.10:g.122898300G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340645.10:c.3745C>G | ENSP00000341848.5:p.Pro1249Ala | |
| ENST00000393667.8:c.3760C>G | ENSP00000377275.3:p.Pro1254Ala | |
| ENST00000472475.2:c.3745C>G | ENSP00000417695.2:p.Pro1249Ala | |
| ENST00000482512.6:c.*3668C>G | ENSP00000419519.1:n.*3668C>G | |
| ENST00000489400.2:c.3520C>G | ENSP00000417767.2:p.Pro1174Ala | |
| ENST00000491690.2:c.2989C>G | ENSP00000420027.2:p.Pro997Ala | |
| ENST00000494517.6:c.3637C>G | ENSP00000418231.2:p.Pro1213Ala | |
| ENST00000694957.1:c.*3545C>G | ENSP00000511617.1:n.*3545C>G | |
| ENST00000694958.1:c.3742C>G | ENSP00000511618.1:p.Pro1248Ala | |
| ENST00000694973.1:c.2989C>G | ENSP00000511621.1:p.Pro997Ala | |
| ENST00000694974.1:c.2989C>G | ENSP00000511622.1:p.Pro997Ala | |
| ENST00000694977.1:c.2989C>G | ENSP00000511624.1:p.Pro997Ala | |
| ENST00000694979.1:c.2989C>G | ENSP00000511626.1:p.Pro997Ala | |
| ENST00000694982.1:c.*3545C>G | ENSP00000511627.1:n.*3545C>G | |
| ENST00000695006.1:c.2989C>G | ENSP00000511639.1:p.Pro997Ala | |
| ENST00000695008.1:c.3637C>G | ENSP00000511640.1:p.Pro1213Ala | |
| ENST00000695009.1:n.2774C>G | ||
| ENST00000695014.1:c.2989C>G | ENSP00000511645.1:p.Pro997Ala | |
| ENST00000695015.1:c.2989C>G | ENSP00000511646.1:p.Pro997Ala | |
| ENST00000695016.1:c.1396+5718C>G | ENSP00000511647.1:n.1396+5718C>G | |
| ENST00000695017.1:c.3742C>G | ENSP00000511648.1:p.Pro1248Ala | |
| ENST00000695018.1:c.3448C>G | ENSP00000511649.1:p.Pro1150Ala | |
| ENST00000695036.1:c.2989C>G | ENSP00000511657.1:p.Pro997Ala | |
| ENST00000695037.1:c.3643C>G | ENSP00000511658.1:p.Pro1215Ala | |
| ENST00000695040.1:c.*1305-4182C>G | ENSP00000511659.1:n.*1305-4182C>G | |
| ENST00000695106.1:c.1051+1938C>G | ENSP00000511697.1:n.1051+1938C>G | |
| ENST00000695107.1:c.*683-14898C>G | ENSP00000511698.1:n.*683-14898C>G | |
| ENST00000695108.1:n.2874C>G | ||
| ENST00000695119.1:c.2989C>G | ENSP00000511708.1:p.Pro997Ala | |
| ENST00000695120.1:c.2989C>G | ENSP00000511709.1:p.Pro997Ala | |
| ENST00000614479.5:c.3760C>G MANE Select | ENSP00000484083.2:p.Pro1254Ala | |
| ENST00000340645.9:c.3745C>G | ENSP00000341848.5:p.Pro1249Ala | |
| ENST00000393667.7:c.3760C>G | ENSP00000377275.3:p.Pro1254Ala | |
| ENST00000482512.5:c.*3668C>G | ENSP00000419519.1:n.*3668C>G | |
| ENST00000494517.5:c.3637C>G | ENSP00000418231.1:p.Pro1213Ala | |
| ENST00000614479.4:c.3520C>G | ENSP00000484083.1:p.Pro1174Ala | |
| NM_001256486.1:c.3760C>G | NP_001243415.1:p.Pro1254Ala | |
| NM_001256487.1:c.3643C>G | NP_001243416.1:p.Pro1215Ala | |
| NM_001256488.1:c.3520C>G | NP_001243417.1:p.Pro1174Ala | |
| NM_004487.4:c.3745C>G | NP_004478.3:p.Pro1249Ala | |
| XM_005247371.3:c.3760C>G | XP_005247428.1:p.Pro1254Ala | |
| XM_005247372.3:c.3643C>G | XP_005247429.1:p.Pro1215Ala | |
| XM_005247373.1:c.3637C>G | XP_005247430.1:p.Pro1213Ala | |
| XM_006713587.1:c.3760C>G | XP_006713650.1:p.Pro1254Ala | |
| XM_006713588.1:c.3745C>G | XP_006713651.1:p.Pro1249Ala | |
| XM_006713589.1:c.3742C>G | XP_006713652.1:p.Pro1248Ala | |
| XM_006713590.1:c.3637C>G | XP_006713653.1:p.Pro1213Ala | |
| XM_006713591.1:c.3520C>G | XP_006713654.1:p.Pro1174Ala | |
| XM_011512699.1:c.3760C>G | XP_011511001.1:p.Pro1254Ala | |
| XM_011512700.1:c.3760C>G | XP_011511002.1:p.Pro1254Ala | |
| XR_924125.1:n.3873C>G | ||
| NM_001366282.1:c.3760C>G | NP_001353211.1:p.Pro1254Ala | |
| NM_001366283.1:c.3637C>G | NP_001353212.1:p.Pro1213Ala | |
| NM_001366284.1:c.3520C>G | NP_001353213.1:p.Pro1174Ala | |
| XM_005247371.4:c.3760C>G | XP_005247428.1:p.Pro1254Ala | |
| XM_005247372.4:c.3643C>G | XP_005247429.1:p.Pro1215Ala | |
| XM_005247373.2:c.3637C>G | XP_005247430.1:p.Pro1213Ala | |
| XM_006713588.2:c.3745C>G | XP_006713651.1:p.Pro1249Ala | |
| XM_006713589.2:c.3742C>G | XP_006713652.1:p.Pro1248Ala | |
| XM_006713591.2:c.3520C>G | XP_006713654.1:p.Pro1174Ala | |
| XM_011512699.3:c.3760C>G | XP_011511001.1:p.Pro1254Ala | |
| XM_017006189.1:c.3745C>G | XP_016861678.1:p.Pro1249Ala | |
| XM_017006190.1:c.3742C>G | XP_016861679.1:p.Pro1248Ala | |
| XM_017006191.1:c.3637C>G | XP_016861680.1:p.Pro1213Ala | |
| XM_017006192.1:c.3628C>G | XP_016861681.1:p.Pro1210Ala | |
| XM_017006193.1:c.3625C>G | XP_016861682.1:p.Pro1209Ala | |
| XM_017006195.1:c.3001C>G | XP_016861684.1:p.Pro1001Ala | |
| XR_001740103.2:n.3886C>G | ||
| XR_001740104.2:n.3886C>G | ||
| XR_001740105.2:n.3886C>G | ||
| XR_001740106.2:n.3886C>G | ||
| NM_001256486.2:c.3760C>G | NP_001243415.1:p.Pro1254Ala | |
| NM_001256487.2:c.3643C>G | NP_001243416.1:p.Pro1215Ala | |
| NM_001366282.2:c.3760C>G MANE Select | NP_001353211.1:p.Pro1254Ala | |
| NM_001366283.2:c.3637C>G | NP_001353212.1:p.Pro1213Ala | |
| NM_001366284.2:c.3520C>G | NP_001353213.1:p.Pro1174Ala | |
| NM_004487.5:c.3745C>G | NP_004478.3:p.Pro1249Ala | |
| NM_001256488.2:c.3520C>G | NP_001243417.1:p.Pro1174Ala | |
| NM_001389631.1:c.3625C>G | NP_001376560.1:p.Pro1209Ala |