Linked Data
ClinVar Variation Id:
880347
dbSNP Id:
rs55689343
ExAC:
10:123258119 T / C
gnomAD v2:
10-123258119-T-C
gnomAD v3:
10-121498605-T-C
gnomAD v4:
10-121498605-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.121498605T>C , CM000672.2:g.121498605T>C | GRCh38 |
| NC_000010.10:g.123258119T>C , CM000672.1:g.123258119T>C | GRCh37 |
| NC_000010.9:g.123248109T>C | NCBI36 |
| NG_012449.1:g.104854A>G | |
| NG_012449.2:g.104854A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000457416.7:c.1565A>G MANE Plus Clinical | ENSP00000410294.2:p.Asp522Gly | |
| ENST00000351936.11:c.1556A>G | ENSP00000309878.10:p.Asp519Gly | |
| ENST00000638709.2:c.386A>G | ENSP00000491912.2:p.Asp129Gly | |
| ENST00000682296.1:n.904A>G | ||
| ENST00000682550.1:c.1211A>G | ENSP00000507633.1:p.Asp404Gly | |
| ENST00000682772.1:c.386A>G | ENSP00000506848.1:p.Asp129Gly | |
| ENST00000682904.1:n.382A>G | ||
| ENST00000683211.1:c.1556A>G | ENSP00000508257.1:p.Asp519Gly | |
| ENST00000683250.1:c.*264A>G | ENSP00000506847.1:n.*264A>G | |
| ENST00000683418.1:n.3903A>G | ||
| ENST00000684153.1:c.1211A>G | ENSP00000506937.1:p.Asp404Gly | |
| ENST00000684516.1:n.2575A>G | ||
| ENST00000358487.10:c.1562A>G MANE Select | ENSP00000351276.6:p.Asp521Gly | |
| ENST00000336553.10:c.1289A>G | ENSP00000337665.6:p.Asp430Gly | |
| ENST00000346997.6:c.1556A>G | ENSP00000263451.5:p.Asp519Gly | |
| ENST00000351936.10:c.1562A>G | ENSP00000309878.9:p.Asp521Gly | |
| ENST00000356226.8:c.1211A>G | ENSP00000348559.4:p.Asp404Gly | |
| ENST00000357555.9:c.1295A>G | ENSP00000350166.5:p.Asp432Gly | |
| ENST00000358487.9:c.1562A>G | ENSP00000351276.5:p.Asp521Gly | |
| ENST00000360144.7:c.1298A>G | ENSP00000353262.3:p.Asp433Gly | |
| ENST00000369056.5:c.1565A>G | ENSP00000358052.1:p.Asp522Gly | |
| ENST00000369058.7:c.1565A>G | ENSP00000358054.3:p.Asp522Gly | |
| ENST00000369059.5:c.1220A>G | ENSP00000358055.1:p.Asp407Gly | |
| ENST00000369060.8:c.1214A>G | ENSP00000358056.4:p.Asp405Gly | |
| ENST00000369061.8:c.1226A>G | ENSP00000358057.4:p.Asp409Gly | |
| ENST00000429361.5:c.338A>G | ENSP00000404219.1:p.Asp113Gly | |
| ENST00000457416.6:c.1565A>G | ENSP00000410294.2:p.Asp522Gly | |
| ENST00000478859.5:c.878A>G | ENSP00000474011.1:p.Asp293Gly | |
| ENST00000604236.5:c.*609A>G | ENSP00000474109.1:n.*609A>G | |
| ENST00000613048.4:c.1295A>G | ENSP00000484154.1:p.Asp432Gly | |
| NM_000141.4:c.1562A>G | NP_000132.3:p.Asp521Gly | |
| NM_001144913.1:c.1565A>G | NP_001138385.1:p.Asp522Gly | |
| NM_001144914.1:c.1226A>G | NP_001138386.1:p.Asp409Gly | |
| NM_001144915.1:c.1295A>G | NP_001138387.1:p.Asp432Gly | |
| NM_001144916.1:c.1217A>G | NP_001138388.1:p.Asp406Gly | |
| NM_001144917.1:c.1214A>G | NP_001138389.1:p.Asp405Gly | |
| NM_001144918.1:c.1211A>G | NP_001138390.1:p.Asp404Gly | |
| NM_001144919.1:c.1298A>G | NP_001138391.1:p.Asp433Gly | |
| NM_022970.3:c.1565A>G | NP_075259.4:p.Asp522Gly | |
| NM_023029.2:c.1295A>G | NP_075418.1:p.Asp432Gly | |
| NR_073009.1:n.2012A>G | ||
| XM_006717708.2:c.1616A>G | XP_006717771.1:p.Asp539Gly | |
| XM_006717709.2:c.1613A>G | XP_006717772.1:p.Asp538Gly | |
| XM_006717710.2:c.1622A>G | XP_006717773.1:p.Asp541Gly | |
| XM_006717711.2:c.1355A>G | XP_006717774.1:p.Asp452Gly | |
| XM_006717712.2:c.1277A>G | XP_006717775.1:p.Asp426Gly | |
| XM_006717713.2:c.1619A>G | XP_006717776.1:p.Asp540Gly | |
| XM_011539510.1:c.878A>G | XP_011537812.1:p.Asp293Gly | |
| NM_001320654.1:c.878A>G | NP_001307583.1:p.Asp293Gly | |
| NM_001320658.1:c.1556A>G | NP_001307587.1:p.Asp519Gly | |
| XM_006717708.3:c.1616A>G | XP_006717771.1:p.Asp539Gly | |
| XM_006717710.4:c.1622A>G | XP_006717773.1:p.Asp541Gly | |
| XM_017015920.2:c.1616A>G | XP_016871409.1:p.Asp539Gly | |
| XM_017015921.2:c.1613A>G | XP_016871410.1:p.Asp538Gly | |
| XM_017015924.2:c.1274A>G | XP_016871413.1:p.Asp425Gly | |
| XM_017015925.2:c.1268A>G | XP_016871414.1:p.Asp423Gly | |
| XM_024447887.1:c.1352A>G | XP_024303655.1:p.Asp451Gly | |
| XM_024447888.1:c.1349A>G | XP_024303656.1:p.Asp450Gly | |
| XM_024447889.1:c.1346A>G | XP_024303657.1:p.Asp449Gly | |
| XM_024447890.1:c.1355A>G | XP_024303658.1:p.Asp452Gly | |
| XM_024447891.1:c.1277A>G | XP_024303659.1:p.Asp426Gly | |
| XM_024447892.1:c.392A>G | XP_024303660.1:p.Asp131Gly | |
| NM_000141.5:c.1562A>G MANE Select | NP_000132.3:p.Asp521Gly | |
| NM_001144917.2:c.1214A>G | NP_001138389.1:p.Asp405Gly | |
| NM_001144918.2:c.1211A>G | NP_001138390.1:p.Asp404Gly | |
| NM_001144919.2:c.1298A>G | NP_001138391.1:p.Asp433Gly | |
| NM_001320658.2:c.1556A>G | NP_001307587.1:p.Asp519Gly | |
| NR_073009.2:n.1998A>G | ||
| NM_001144915.2:c.1295A>G | NP_001138387.1:p.Asp432Gly | |
| NM_001144916.2:c.1217A>G | NP_001138388.1:p.Asp406Gly | |
| NM_001320654.2:c.878A>G | NP_001307583.1:p.Asp293Gly |