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:
1370325
dbSNP Id:
rs139039617
ExAC:
22:26860178 C / T
gnomAD v2:
22-26860178-C-T
gnomAD v3:
22-26464212-C-T
gnomAD v4:
22-26464212-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.26464212C>T , CM000684.2:g.26464212C>T | GRCh38 |
| NC_000022.10:g.26860178C>T , CM000684.1:g.26860178C>T | GRCh37 |
| NC_000022.9:g.25190178C>T | NCBI36 |
| NG_009763.2:g.24652G>A , LRG_590:g.24652G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000422379.3:c.1472G>A | ENSP00000415081.3:p.Arg491His | |
| ENST00000473782.2:c.1418G>A | ENSP00000514223.1:p.Arg473His | |
| ENST00000483631.2:c.623G>A | ENSP00000514228.1:p.Arg208His | |
| ENST00000491142.2:c.1418G>A | ENSP00000514221.1:p.Arg473His | |
| ENST00000699226.1:n.4344G>A | ||
| ENST00000699227.1:c.*762G>A | ENSP00000514220.1:n.*762G>A | |
| ENST00000699228.1:n.1968G>A | ||
| ENST00000699229.1:n.835G>A | ||
| ENST00000699230.1:n.2141G>A | ||
| ENST00000699231.1:n.4430G>A | ||
| ENST00000699232.1:n.2774G>A | ||
| ENST00000699233.1:n.1289G>A | ||
| ENST00000699234.1:c.*762G>A | ENSP00000514222.1:n.*762G>A | |
| ENST00000699235.1:c.623G>A | ENSP00000514224.1:p.Arg208His | |
| ENST00000699236.1:c.*607G>A | ENSP00000514225.1:n.*607G>A | |
| ENST00000699237.1:c.*607G>A | ENSP00000514226.1:n.*607G>A | |
| ENST00000699238.1:c.*961G>A | ENSP00000514227.1:n.*961G>A | |
| ENST00000699239.1:n.4172G>A | ||
| ENST00000699240.1:c.*1075G>A | ENSP00000514229.1:n.*1075G>A | |
| ENST00000699241.1:c.*1610G>A | ENSP00000514230.1:n.*1610G>A | |
| ENST00000699242.1:c.1328G>A | ENSP00000514231.1:p.Arg443His | |
| ENST00000699243.1:c.*762G>A | ENSP00000514232.1:n.*762G>A | |
| ENST00000699244.1:c.1271G>A | ENSP00000514233.1:p.Arg424His | |
| ENST00000699246.1:c.*789G>A | ENSP00000514234.1:n.*789G>A | |
| ENST00000699247.1:c.669+4339G>A | ENSP00000514235.1:n.669+4339G>A | |
| ENST00000699248.1:n.3488G>A | ||
| ENST00000699249.1:c.*762G>A | ENSP00000514236.1:n.*762G>A | |
| ENST00000699250.1:c.1418G>A | ENSP00000514237.1:p.Arg473His | |
| ENST00000699251.1:c.1418G>A | ENSP00000514238.1:p.Arg473His | |
| ENST00000699252.1:n.1968G>A | ||
| ENST00000398145.7:c.1418G>A MANE Select | ENSP00000381213.2:p.Arg473His | |
| ENST00000336873.9:c.1418G>A | ENSP00000338457.5:p.Arg473His | |
| ENST00000398145.6:c.1418G>A | ENSP00000381213.2:p.Arg473His | |
| ENST00000402105.7:c.1403G>A | ENSP00000384185.3:p.Arg468His | |
| ENST00000429411.5:c.*990G>A | ENSP00000399705.1:n.*990G>A | |
| ENST00000439453.5:c.*936G>A | ENSP00000406764.1:n.*936G>A | |
| ENST00000464362.5:c.*1749G>A | ENSP00000430291.1:n.*1749G>A | |
| ENST00000466781.5:n.4277G>A | ||
| ENST00000485842.5:n.404+4339G>A | ||
| ENST00000496385.5:n.2184G>A | ||
| NM_022081.5:c.1418G>A , LRG_590t1:c.1418G>A | NP_071364.4:p.Arg473His | |
| NM_152841.2:c.1403G>A , LRG_590t2:c.1403G>A | NP_690054.1:p.Arg468His | |
| NR_073135.1:n.2104G>A | ||
| NR_073136.1:n.1866G>A | ||
| XM_006724353.2:c.1472G>A | XP_006724416.1:p.Arg491His | |
| XM_006724354.2:c.1472G>A | XP_006724417.1:p.Arg491His | |
| XM_006724360.2:c.905G>A | XP_006724423.1:p.Arg302His | |
| XM_011530485.1:c.1550G>A | XP_011528787.1:p.Arg517His | |
| XM_011530486.1:c.1550G>A | XP_011528788.1:p.Arg517His | |
| XM_011530487.1:c.1550G>A | XP_011528789.1:p.Arg517His | |
| XM_011530488.1:c.1550G>A | XP_011528790.1:p.Arg517His | |
| XM_011530489.1:c.1550G>A | XP_011528791.1:p.Arg517His | |
| XM_011530490.1:c.1496G>A | XP_011528792.1:p.Arg499His | |
| XM_011530491.1:c.1550G>A | XP_011528793.1:p.Arg517His | |
| XM_011530492.1:c.1550G>A | XP_011528794.1:p.Arg517His | |
| XM_011530493.1:c.1550G>A | XP_011528795.1:p.Arg517His | |
| XM_011530494.1:c.758G>A | XP_011528796.1:p.Arg253His | |
| XM_011530495.1:c.905G>A | XP_011528797.1:p.Arg302His | |
| XM_011530496.1:c.758G>A | XP_011528798.1:p.Arg253His | |
| XR_937947.1:n.2209G>A | ||
| NM_001349896.1:c.1418G>A | NP_001336825.1:p.Arg473His | |
| NM_001349898.1:c.1418G>A | NP_001336827.1:p.Arg473His | |
| NM_001349899.1:c.1418G>A | NP_001336828.1:p.Arg473His | |
| NM_001349900.1:c.1472G>A | NP_001336829.1:p.Arg491His | |
| NM_001349901.1:c.1472G>A | NP_001336830.1:p.Arg491His | |
| NM_001349902.1:c.1418G>A | NP_001336831.1:p.Arg473His | |
| NM_001349903.1:c.1418G>A | NP_001336832.1:p.Arg473His | |
| NM_001349904.1:c.1418G>A | NP_001336833.1:p.Arg473His | |
| NM_001349905.1:c.1418G>A | NP_001336834.1:p.Arg473His | |
| NR_146311.1:n.2195G>A | ||
| NR_146312.1:n.2020G>A | ||
| NR_146313.1:n.2040G>A | ||
| NR_146314.1:n.2171G>A | ||
| NR_146315.1:n.2111G>A | ||
| NR_146316.1:n.2086G>A | ||
| XM_006724360.3:c.905G>A | XP_006724423.1:p.Arg302His | |
| XM_011530485.2:c.1550G>A | XP_011528787.1:p.Arg517His | |
| XM_011530486.2:c.1550G>A | XP_011528788.1:p.Arg517His | |
| XM_011530487.2:c.1550G>A | XP_011528789.1:p.Arg517His | |
| XM_011530488.2:c.1550G>A | XP_011528790.1:p.Arg517His | |
| XM_011530489.2:c.1550G>A | XP_011528791.1:p.Arg517His | |
| XM_011530490.3:c.1496G>A | XP_011528792.1:p.Arg499His | |
| XM_011530491.3:c.1550G>A | XP_011528793.1:p.Arg517His | |
| XM_011530492.2:c.1550G>A | XP_011528794.1:p.Arg517His | |
| XM_011530493.3:c.1550G>A | XP_011528795.1:p.Arg517His | |
| XM_011530494.2:c.758G>A | XP_011528796.1:p.Arg253His | |
| XM_011530495.2:c.905G>A | XP_011528797.1:p.Arg302His | |
| XM_011530496.2:c.758G>A | XP_011528798.1:p.Arg253His | |
| XM_017029045.2:c.1496G>A | XP_016884534.1:p.Arg499His | |
| XM_017029046.2:c.1418G>A | XP_016884535.1:p.Arg473His | |
| XM_017029047.2:c.1496G>A | XP_016884536.1:p.Arg499His | |
| XM_017029052.2:c.1010G>A | XP_016884541.1:p.Arg337His | |
| XM_017029053.1:c.995G>A | XP_016884542.1:p.Arg332His | |
| XM_017029056.2:c.623G>A | XP_016884545.1:p.Arg208His | |
| XM_017029061.2:c.623G>A | XP_016884550.1:p.Arg208His | |
| XM_017029062.2:c.623G>A | XP_016884551.1:p.Arg208His | |
| XM_017029063.2:c.623G>A | XP_016884552.1:p.Arg208His | |
| XM_017029064.2:c.623G>A | XP_016884553.1:p.Arg208His | |
| XM_024452298.1:c.791G>A | XP_024308066.1:p.Arg264His | |
| XM_024452299.1:c.623G>A | XP_024308067.1:p.Arg208His | |
| XM_024452300.1:c.623G>A | XP_024308068.1:p.Arg208His | |
| XR_001755361.2:n.2126G>A | ||
| XR_001755364.1:n.1982G>A | ||
| XR_001755366.2:n.2655G>A | ||
| XR_002958721.1:n.2204G>A | ||
| XR_937947.2:n.2204G>A | ||
| NM_001349898.2:c.1418G>A | NP_001336827.1:p.Arg473His | |
| NM_001349899.2:c.1418G>A | NP_001336828.1:p.Arg473His | |
| NM_001349900.2:c.1472G>A | NP_001336829.1:p.Arg491His | |
| NM_001349903.2:c.1418G>A | NP_001336832.1:p.Arg473His | |
| NM_001349904.2:c.1418G>A | NP_001336833.1:p.Arg473His | |
| NR_073136.2:n.1673G>A | ||
| NR_146311.2:n.2115G>A | ||
| NR_146313.2:n.1960G>A | ||
| NR_146315.2:n.2031G>A | ||
| NM_022081.6:c.1418G>A MANE Select | NP_071364.4:p.Arg473His | |
| NR_146316.2:n.2006G>A |