WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
Linked Data
ClinVar Variation Id:
299001
ClinVar RCV Id:
RCV000271798
RCV000322101
RCV000366380
RCV000369376
RCV000396257
RCV000951561
RCV001672418
dbSNP Id:
rs200522893
ExAC:
10:123260353 C / T
gnomAD v2:
10-123260353-C-T
gnomAD v3:
10-121500839-C-T
gnomAD v4:
10-121500839-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.121500839C>T , CM000672.2:g.121500839C>T | GRCh38 |
| NC_000010.10:g.123260353C>T , CM000672.1:g.123260353C>T | GRCh37 |
| NC_000010.9:g.123250343C>T | NCBI36 |
| NG_012449.1:g.102620G>A | |
| NG_012449.2:g.102620G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000457416.7:c.1551G>A MANE Plus Clinical | ENSP00000410294.2:p.Val517= | |
| ENST00000351936.11:c.1542G>A | ENSP00000309878.10:p.Val514= | |
| ENST00000638709.2:c.372G>A | ENSP00000491912.2:p.Val124= | |
| ENST00000682296.1:n.890G>A | ||
| ENST00000682550.1:c.1197G>A | ENSP00000507633.1:p.Val399= | |
| ENST00000682772.1:c.372G>A | ENSP00000506848.1:p.Val124= | |
| ENST00000682904.1:n.368G>A | ||
| ENST00000683211.1:c.1542G>A | ENSP00000508257.1:p.Val514= | |
| ENST00000683250.1:c.*250G>A | ENSP00000506847.1:n.*250G>A | |
| ENST00000683418.1:n.3889G>A | ||
| ENST00000684153.1:c.1197G>A | ENSP00000506937.1:p.Val399= | |
| ENST00000684516.1:n.2561G>A | ||
| ENST00000358487.10:c.1548G>A MANE Select | ENSP00000351276.6:p.Val516= | |
| ENST00000336553.10:c.1275G>A | ENSP00000337665.6:p.Val425= | |
| ENST00000346997.6:c.1542G>A | ENSP00000263451.5:p.Val514= | |
| ENST00000351936.10:c.1548G>A | ENSP00000309878.9:p.Val516= | |
| ENST00000356226.8:c.1197G>A | ENSP00000348559.4:p.Val399= | |
| ENST00000357555.9:c.1281G>A | ENSP00000350166.5:p.Val427= | |
| ENST00000358487.9:c.1548G>A | ENSP00000351276.5:p.Val516= | |
| ENST00000360144.7:c.1284G>A | ENSP00000353262.3:p.Val428= | |
| ENST00000369056.5:c.1551G>A | ENSP00000358052.1:p.Val517= | |
| ENST00000369058.7:c.1551G>A | ENSP00000358054.3:p.Val517= | |
| ENST00000369059.5:c.1206G>A | ENSP00000358055.1:p.Val402= | |
| ENST00000369060.8:c.1200G>A | ENSP00000358056.4:p.Val400= | |
| ENST00000369061.8:c.1212G>A | ENSP00000358057.4:p.Val404= | |
| ENST00000429361.5:c.324G>A | ENSP00000404219.1:p.Val108= | |
| ENST00000457416.6:c.1551G>A | ENSP00000410294.2:p.Val517= | |
| ENST00000478859.5:c.864G>A | ENSP00000474011.1:p.Val288= | |
| ENST00000604236.5:c.*595G>A | ENSP00000474109.1:n.*595G>A | |
| ENST00000613048.4:c.1281G>A | ENSP00000484154.1:p.Val427= | |
| NM_000141.4:c.1548G>A | NP_000132.3:p.Val516= | |
| NM_001144913.1:c.1551G>A | NP_001138385.1:p.Val517= | |
| NM_001144914.1:c.1212G>A | NP_001138386.1:p.Val404= | |
| NM_001144915.1:c.1281G>A | NP_001138387.1:p.Val427= | |
| NM_001144916.1:c.1203G>A | NP_001138388.1:p.Val401= | |
| NM_001144917.1:c.1200G>A | NP_001138389.1:p.Val400= | |
| NM_001144918.1:c.1197G>A | NP_001138390.1:p.Val399= | |
| NM_001144919.1:c.1284G>A | NP_001138391.1:p.Val428= | |
| NM_022970.3:c.1551G>A | NP_075259.4:p.Val517= | |
| NM_023029.2:c.1281G>A | NP_075418.1:p.Val427= | |
| NR_073009.1:n.1998G>A | ||
| XM_006717708.2:c.1602G>A | XP_006717771.1:p.Val534= | |
| XM_006717709.2:c.1599G>A | XP_006717772.1:p.Val533= | |
| XM_006717710.2:c.1608G>A | XP_006717773.1:p.Val536= | |
| XM_006717711.2:c.1341G>A | XP_006717774.1:p.Val447= | |
| XM_006717712.2:c.1263G>A | XP_006717775.1:p.Val421= | |
| XM_006717713.2:c.1605G>A | XP_006717776.1:p.Val535= | |
| XM_011539510.1:c.864G>A | XP_011537812.1:p.Val288= | |
| NM_001320654.1:c.864G>A | NP_001307583.1:p.Val288= | |
| NM_001320658.1:c.1542G>A | NP_001307587.1:p.Val514= | |
| XM_006717708.3:c.1602G>A | XP_006717771.1:p.Val534= | |
| XM_006717710.4:c.1608G>A | XP_006717773.1:p.Val536= | |
| XM_017015920.2:c.1602G>A | XP_016871409.1:p.Val534= | |
| XM_017015921.2:c.1599G>A | XP_016871410.1:p.Val533= | |
| XM_017015924.2:c.1260G>A | XP_016871413.1:p.Val420= | |
| XM_017015925.2:c.1254G>A | XP_016871414.1:p.Val418= | |
| XM_024447887.1:c.1338G>A | XP_024303655.1:p.Val446= | |
| XM_024447888.1:c.1335G>A | XP_024303656.1:p.Val445= | |
| XM_024447889.1:c.1332G>A | XP_024303657.1:p.Val444= | |
| XM_024447890.1:c.1341G>A | XP_024303658.1:p.Val447= | |
| XM_024447891.1:c.1263G>A | XP_024303659.1:p.Val421= | |
| XM_024447892.1:c.378G>A | XP_024303660.1:p.Val126= | |
| NM_000141.5:c.1548G>A MANE Select | NP_000132.3:p.Val516= | |
| NM_001144917.2:c.1200G>A | NP_001138389.1:p.Val400= | |
| NM_001144918.2:c.1197G>A | NP_001138390.1:p.Val399= | |
| NM_001144919.2:c.1284G>A | NP_001138391.1:p.Val428= | |
| NM_001320658.2:c.1542G>A | NP_001307587.1:p.Val514= | |
| NR_073009.2:n.1984G>A | ||
| NM_001144915.2:c.1281G>A | NP_001138387.1:p.Val427= | |
| NM_001144916.2:c.1203G>A | NP_001138388.1:p.Val401= | |
| NM_001320654.2:c.864G>A | NP_001307583.1:p.Val288= |