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:
577711
ClinVar RCV Id:
RCV000700533
RCV000763646
RCV001106572
RCV001106573
RCV001106574
RCV001108748
RCV001108749
RCV001536168
dbSNP Id:
rs199757302
ExAC:
10:123276928 C / T
gnomAD v2:
10-123276928-C-T
gnomAD v3:
10-121517414-C-T
gnomAD v4:
10-121517414-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.121517414C>T , CM000672.2:g.121517414C>T | GRCh38 |
| NC_000010.10:g.123276928C>T , CM000672.1:g.123276928C>T | GRCh37 |
| NC_000010.9:g.123266918C>T | NCBI36 |
| NG_012449.1:g.86045G>A | |
| NG_012449.2:g.86045G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000457416.7:c.1087+1268G>A MANE Plus Clinical | ENSP00000410294.2:n.1087+1268G>A | |
| ENST00000351936.11:c.989G>A | ENSP00000309878.10:p.Arg330Gln | |
| ENST00000638709.2:c.-182G>A | ENSP00000491912.2:n.-182G>A | |
| ENST00000682296.1:n.337G>A | ||
| ENST00000682400.1:n.644G>A | ||
| ENST00000682550.1:c.644G>A | ENSP00000507633.1:p.Arg215Gln | |
| ENST00000682772.1:c.-182G>A | ENSP00000506848.1:n.-182G>A | |
| ENST00000683211.1:c.989G>A | ENSP00000508257.1:p.Arg330Gln | |
| ENST00000683250.1:c.404-13473G>A | ENSP00000506847.1:n.404-13473G>A | |
| ENST00000683418.1:n.3336G>A | ||
| ENST00000683678.1:n.989G>A | ||
| ENST00000684153.1:c.644G>A | ENSP00000506937.1:p.Arg215Gln | |
| ENST00000358487.10:c.989G>A MANE Select | ENSP00000351276.6:p.Arg330Gln | |
| ENST00000336553.10:c.722G>A | ENSP00000337665.6:p.Arg241Gln | |
| ENST00000346997.6:c.989G>A | ENSP00000263451.5:p.Arg330Gln | |
| ENST00000351936.10:c.995G>A | ENSP00000309878.9:p.Arg332Gln | |
| ENST00000356226.8:c.644G>A | ENSP00000348559.4:p.Arg215Gln | |
| ENST00000357555.9:c.722G>A | ENSP00000350166.5:p.Arg241Gln | |
| ENST00000358487.9:c.989G>A | ENSP00000351276.5:p.Arg330Gln | |
| ENST00000360144.7:c.820+1268G>A | ENSP00000353262.3:n.820+1268G>A | |
| ENST00000369056.5:c.1087+1268G>A | ENSP00000358052.1:n.1087+1268G>A | |
| ENST00000369058.7:c.1087+1268G>A | ENSP00000358054.3:n.1087+1268G>A | |
| ENST00000369059.5:c.742+1268G>A | ENSP00000358055.1:n.742+1268G>A | |
| ENST00000369060.8:c.939+2565G>A | ENSP00000358056.4:n.939+2565G>A | |
| ENST00000369061.8:c.749-2095G>A | ENSP00000358057.4:n.749-2095G>A | |
| ENST00000457416.6:c.1087+1268G>A | ENSP00000410294.2:n.1087+1268G>A | |
| ENST00000463870.5:n.198G>A | ||
| ENST00000478859.5:c.305G>A | ENSP00000474011.1:p.Arg102Gln | |
| ENST00000490349.5:n.1398G>A | ||
| ENST00000604236.5:c.*36G>A | ENSP00000474109.1:n.*36G>A | |
| ENST00000613048.4:c.722G>A | ENSP00000484154.1:p.Arg241Gln | |
| NM_000141.4:c.989G>A | NP_000132.3:p.Arg330Gln | |
| NM_001144913.1:c.1087+1268G>A | NP_001138385.1:n.1087+1268G>A | |
| NM_001144914.1:c.749-2095G>A | NP_001138386.1:n.749-2095G>A | |
| NM_001144915.1:c.722G>A | NP_001138387.1:p.Arg241Gln | |
| NM_001144916.1:c.644G>A | NP_001138388.1:p.Arg215Gln | |
| NM_001144917.1:c.939+2565G>A | NP_001138389.1:n.939+2565G>A | |
| NM_001144918.1:c.644G>A | NP_001138390.1:p.Arg215Gln | |
| NM_001144919.1:c.820+1268G>A | NP_001138391.1:n.820+1268G>A | |
| NM_022970.3:c.1087+1268G>A | NP_075259.4:n.1087+1268G>A | |
| NM_023029.2:c.722G>A | NP_075418.1:p.Arg241Gln | |
| NR_073009.1:n.1439G>A | ||
| XM_006717708.2:c.1144+1268G>A | XP_006717771.1:n.1144+1268G>A | |
| XM_006717709.2:c.1046G>A | XP_006717772.1:p.Arg349Gln | |
| XM_006717710.2:c.1144+1268G>A | XP_006717773.1:n.1144+1268G>A | |
| XM_006717711.2:c.877+1268G>A | XP_006717774.1:n.877+1268G>A | |
| XM_006717712.2:c.799+1268G>A | XP_006717775.1:n.799+1268G>A | |
| XM_006717713.2:c.1046G>A | XP_006717776.1:p.Arg349Gln | |
| XM_011539510.1:c.305G>A | XP_011537812.1:p.Arg102Gln | |
| NM_001320654.1:c.305G>A | NP_001307583.1:p.Arg102Gln | |
| NM_001320658.1:c.989G>A | NP_001307587.1:p.Arg330Gln | |
| XM_006717708.3:c.1144+1268G>A | XP_006717771.1:n.1144+1268G>A | |
| XM_006717710.4:c.1144+1268G>A | XP_006717773.1:n.1144+1268G>A | |
| XM_017015920.2:c.1144+1268G>A | XP_016871409.1:n.1144+1268G>A | |
| XM_017015921.2:c.1046G>A | XP_016871410.1:p.Arg349Gln | |
| XM_017015924.2:c.701G>A | XP_016871413.1:p.Arg234Gln | |
| XM_017015925.2:c.701G>A | XP_016871414.1:p.Arg234Gln | |
| XM_024447887.1:c.779G>A | XP_024303655.1:p.Arg260Gln | |
| XM_024447888.1:c.877+1268G>A | XP_024303656.1:n.877+1268G>A | |
| XM_024447889.1:c.779G>A | XP_024303657.1:p.Arg260Gln | |
| XM_024447890.1:c.877+1268G>A | XP_024303658.1:n.877+1268G>A | |
| XM_024447891.1:c.799+1268G>A | XP_024303659.1:n.799+1268G>A | |
| XM_024447892.1:c.-182G>A | XP_024303660.1:n.-182G>A | |
| NM_000141.5:c.989G>A MANE Select | NP_000132.3:p.Arg330Gln | |
| NM_001144917.2:c.939+2565G>A | NP_001138389.1:n.939+2565G>A | |
| NM_001144918.2:c.644G>A | NP_001138390.1:p.Arg215Gln | |
| NM_001144919.2:c.820+1268G>A | NP_001138391.1:n.820+1268G>A | |
| NM_001320658.2:c.989G>A | NP_001307587.1:p.Arg330Gln | |
| NR_073009.2:n.1425G>A | ||
| NM_001144915.2:c.722G>A | NP_001138387.1:p.Arg241Gln | |
| NM_001144916.2:c.644G>A | NP_001138388.1:p.Arg215Gln | |
| NM_001320654.2:c.305G>A | NP_001307583.1:p.Arg102Gln |