gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000876 (SAS)
Exomes Max Group AF
0.00000925 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2084554C>G , CM000678.2:g.2084554C>G | GRCh38 |
| NC_000016.9:g.2134555C>G , CM000678.1:g.2134555C>G | GRCh37 |
| NC_000016.8:g.2074556C>G | NCBI36 |
| NG_005895.1:g.40249C>G , LRG_487:g.40249C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000568566.6:c.*2681C>G | ENSP00000455997.2:n.*2681C>G | |
| ENST00000642206.2:c.4179C>G | ENSP00000495146.2:p.Pro1393= | |
| ENST00000642365.2:c.4329C>G | ENSP00000495459.2:p.Pro1443= | |
| ENST00000644417.2:c.*4712C>G | ENSP00000493912.2:n.*4712C>G | |
| ENST00000646464.2:c.*7081C>G | ENSP00000496610.2:n.*7081C>G | |
| ENST00000219476.9:c.4332C>G MANE Select | ENSP00000219476.3:p.Pro1444= | |
| ENST00000350773.9:c.4263C>G | ENSP00000344383.4:p.Pro1421= | |
| ENST00000401874.7:c.4131C>G | ENSP00000384468.2:p.Pro1377= | |
| ENST00000568454.6:c.4164C>G | ENSP00000454487.1:p.Pro1388= | |
| ENST00000569110.2:c.568C>G | ||
| ENST00000569930.2:n.2214C>G | ||
| ENST00000642365.1:c.2986C>G | ||
| ENST00000642561.1:c.4203C>G | ENSP00000495099.1:p.Pro1401= | |
| ENST00000642728.1:n.514C>G | ||
| ENST00000642797.1:c.4134C>G | ENSP00000493846.1:p.Pro1378= | |
| ENST00000642936.1:c.4200C>G | ENSP00000494514.1:p.Pro1400= | |
| ENST00000643088.1:c.4131C>G | ENSP00000494747.1:p.Pro1377= | |
| ENST00000643177.1:n.346C>G | ||
| ENST00000643426.1:n.1980C>G | ||
| ENST00000643946.1:c.4263C>G | ENSP00000495927.1:p.Pro1421= | |
| ENST00000644043.1:c.4203C>G | ENSP00000496262.1:p.Pro1401= | |
| ENST00000644329.1:c.4131C>G | ENSP00000496611.1:p.Pro1377= | |
| ENST00000644335.1:c.4134C>G | ENSP00000496317.1:p.Pro1378= | |
| ENST00000644399.1:c.4253C>G | ||
| ENST00000645024.1:n.2416C>G | ||
| ENST00000646388.1:c.4332C>G | ENSP00000495921.1:p.Pro1444= | |
| ENST00000646634.1:n.3147C>G | ||
| ENST00000646674.1:n.1584C>G | ||
| ENST00000647042.1:n.1555C>G | ||
| ENST00000647180.1:n.1445C>G | ||
| ENST00000219476.7:c.4332C>G | ENSP00000219476.3:p.Pro1444= | |
| ENST00000350773.8:c.4263C>G | ENSP00000344383.4:p.Pro1421= | |
| ENST00000382538.10:c.3987C>G | ENSP00000371978.6:p.Pro1329= | |
| ENST00000401874.6:c.4131C>G | ENSP00000384468.2:p.Pro1377= | |
| ENST00000439117.6:c.*3499C>G | ENSP00000406980.2:n.*3499C>G | |
| ENST00000439673.6:c.4023C>G | ENSP00000399232.2:p.Pro1341= | |
| ENST00000497886.5:n.2090C>G | ||
| ENST00000568454.5:c.4164C>G | ENSP00000454487.1:p.Pro1388= | |
| ENST00000569110.1:c.514C>G | ||
| ENST00000569930.1:n.1447C>G | ||
| NM_000548.3:c.4332C>G , LRG_487t1:c.4332C>G | NP_000539.2:p.Pro1444= | |
| NM_001077183.1:c.4131C>G | NP_001070651.1:p.Pro1377= | |
| NM_001114382.1:c.4263C>G | NP_001107854.1:p.Pro1421= | |
| XM_005255529.3:c.4203C>G | XP_005255586.2:p.Pro1401= | |
| XM_005255531.3:c.4134C>G | XP_005255588.2:p.Pro1378= | |
| XM_011522636.1:c.4386C>G | XP_011520938.1:p.Pro1462= | |
| XM_011522637.1:c.4383C>G | XP_011520939.1:p.Pro1461= | |
| XM_011522638.1:c.4275C>G | XP_011520940.1:p.Pro1425= | |
| XM_011522639.1:c.4257C>G | XP_011520941.1:p.Pro1419= | |
| XM_011522640.1:c.4254C>G | XP_011520942.1:p.Pro1418= | |
| XM_011522641.1:c.4023C>G | XP_011520943.1:p.Pro1341= | |
| NM_000548.4:c.4332C>G | NP_000539.2:p.Pro1444= | |
| NM_001077183.2:c.4131C>G | NP_001070651.1:p.Pro1377= | |
| NM_001114382.2:c.4263C>G | NP_001107854.1:p.Pro1421= | |
| NM_001318827.1:c.4023C>G | NP_001305756.1:p.Pro1341= | |
| NM_001318829.1:c.3987C>G | NP_001305758.1:p.Pro1329= | |
| NM_001318831.1:c.3600C>G | NP_001305760.1:p.Pro1200= | |
| NM_001318832.1:c.4164C>G | NP_001305761.1:p.Pro1388= | |
| NM_001363528.1:c.4134C>G | NP_001350457.1:p.Pro1378= | |
| NM_021055.2:c.4203C>G | NP_066399.2:p.Pro1401= | |
| XM_005255531.4:c.4134C>G | XP_005255588.2:p.Pro1378= | |
| XM_011522636.2:c.4386C>G | XP_011520938.1:p.Pro1462= | |
| XM_011522637.2:c.4383C>G | XP_011520939.1:p.Pro1461= | |
| XM_011522638.2:c.4548C>G | XP_011520940.2:p.Pro1516= | |
| XM_011522639.2:c.4257C>G | XP_011520941.1:p.Pro1419= | |
| XM_011522640.2:c.4254C>G | XP_011520942.1:p.Pro1418= | |
| XM_017023615.1:c.4329C>G | XP_016879104.1:p.Pro1443= | |
| XM_017023616.1:c.4200C>G | XP_016879105.1:p.Pro1400= | |
| XM_017023617.1:c.4296C>G | XP_016879106.1:p.Pro1432= | |
| XM_017023618.1:c.3042C>G | XP_016879107.1:p.Pro1014= | |
| XM_024450413.1:c.4131C>G | XP_024306181.1:p.Pro1377= | |
| NM_000548.5:c.4332C>G MANE Select | NP_000539.2:p.Pro1444= | |
| NM_001370404.1:c.4200C>G | NP_001357333.1:p.Pro1400= | |
| NM_001370405.1:c.4203C>G | NP_001357334.1:p.Pro1401= | |
| NM_001077183.3:c.4131C>G | NP_001070651.1:p.Pro1377= | |
| NM_001114382.3:c.4263C>G | NP_001107854.1:p.Pro1421= | |
| NM_001318827.2:c.4023C>G | NP_001305756.1:p.Pro1341= | |
| NM_001318829.2:c.3987C>G | NP_001305758.1:p.Pro1329= | |
| NM_001318831.2:c.3600C>G | NP_001305760.1:p.Pro1200= | |
| NM_001318832.2:c.4164C>G | NP_001305761.1:p.Pro1388= | |
| NM_001363528.2:c.4134C>G | NP_001350457.1:p.Pro1378= | |
| NM_021055.3:c.4203C>G | NP_066399.2:p.Pro1401= |