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:
452467
dbSNP Id:
rs758736387
ExAC:
9:134393890 G / A
gnomAD v2:
9-134393890-G-A
gnomAD v3:
9-131518503-G-A
gnomAD v4:
9-131518503-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.131518503G>A , CM000671.2:g.131518503G>A | GRCh38 |
| NC_000009.11:g.134393890G>A , CM000671.1:g.134393890G>A | GRCh37 |
| NC_000009.10:g.133383711G>A | NCBI36 |
| NG_008896.1:g.20602G>A | |
| NG_008896.2:g.20602G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000341012.13:c.1169G>A | ENSP00000343034.7:p.Arg390His | |
| ENST00000404875.7:n.1871G>A | ||
| ENST00000423007.6:c.1388G>A | ENSP00000404119.2:p.Arg463His | |
| ENST00000677295.2:c.*1675G>A | ENSP00000504346.2:n.*1675G>A | |
| ENST00000678264.2:c.*1514G>A | ENSP00000503157.2:n.*1514G>A | |
| ENST00000682070.1:n.1796G>A | ||
| ENST00000682535.1:n.103G>A | ||
| ENST00000682539.1:c.269G>A | ||
| ENST00000682813.1:n.1596G>A | ||
| ENST00000683110.1:n.59G>A | ||
| ENST00000683392.1:n.4078G>A | ||
| ENST00000683712.1:n.1736G>A | ||
| ENST00000683900.1:n.3231G>A | ||
| ENST00000684062.1:n.1997G>A | ||
| ENST00000684579.1:n.3177G>A | ||
| ENST00000684679.1:n.558G>A | ||
| ENST00000341012.12:c.1169G>A | ENSP00000343034.7:p.Arg390His | |
| ENST00000372220.5:c.200G>A | ENSP00000361294.5:p.Arg67His | |
| ENST00000372228.9:c.1397G>A | ENSP00000361302.3:p.Arg466His | |
| ENST00000402686.8:c.1331G>A MANE Select | ENSP00000385797.4:p.Arg444His | |
| ENST00000676640.1:c.1331G>A | ENSP00000503281.1:p.Arg444His | |
| ENST00000676803.1:c.506G>A | ENSP00000503093.1:p.Arg169His | |
| ENST00000676835.1:c.*546G>A | ENSP00000502911.1:n.*546G>A | |
| ENST00000677029.1:c.875G>A | ENSP00000502936.1:p.Arg292His | |
| ENST00000677099.1:c.*1041G>A | ENSP00000504553.1:n.*1041G>A | |
| ENST00000677216.1:c.980G>A | ENSP00000503772.1:p.Arg327His | |
| ENST00000677221.1:n.356G>A | ||
| ENST00000677295.1:c.*708G>A | ENSP00000504346.1:n.*708G>A | |
| ENST00000677444.1:c.1137G>A | ||
| ENST00000677586.1:n.812G>A | ||
| ENST00000677626.1:c.980G>A | ENSP00000503552.1:p.Arg327His | |
| ENST00000677677.1:n.1291G>A | ||
| ENST00000677853.1:c.*339G>A | ENSP00000503488.1:n.*339G>A | |
| ENST00000677983.1:n.420G>A | ||
| ENST00000678202.1:n.351G>A | ||
| ENST00000678264.1:c.*708G>A | ENSP00000503157.1:n.*708G>A | |
| ENST00000678303.1:c.1241G>A | ENSP00000503696.1:p.Arg414His | |
| ENST00000678366.1:c.*1580G>A | ENSP00000504353.1:n.*1580G>A | |
| ENST00000678546.1:c.*1276G>A | ENSP00000503062.1:n.*1276G>A | |
| ENST00000678548.1:c.*1403G>A | ENSP00000503934.1:n.*1403G>A | |
| ENST00000678626.1:n.1028G>A | ||
| ENST00000678733.1:c.412G>A | ||
| ENST00000678739.1:c.*1657G>A | ENSP00000503806.1:n.*1657G>A | |
| ENST00000678795.1:n.418G>A | ||
| ENST00000678833.1:c.*778G>A | ENSP00000503893.1:n.*778G>A | |
| ENST00000678942.1:c.511G>A | ENSP00000504690.1:n.511G>A | |
| ENST00000679023.1:c.1169G>A | ENSP00000503718.1:p.Arg390His | |
| ENST00000679076.1:c.950G>A | ||
| ENST00000679111.1:c.1331G>A | ENSP00000504257.1:p.Arg444His | |
| ENST00000679189.1:c.980G>A | ENSP00000503356.1:p.Arg327His | |
| ENST00000341012.11:c.1169G>A | ENSP00000343034.7:p.Arg390His | |
| ENST00000372220.4:c.194G>A | ENSP00000361294.4:p.Arg65His | |
| ENST00000372228.7:c.1397G>A | ENSP00000361302.3:p.Arg466His | |
| ENST00000402686.7:c.1331G>A | ENSP00000385797.3:p.Arg444His | |
| ENST00000404875.6:c.980G>A | ENSP00000384531.2:p.Arg327His | |
| ENST00000423007.5:c.1331G>A | ENSP00000404119.1:p.Arg444His | |
| ENST00000485278.5:n.1886G>A | ||
| NM_001077365.1:c.1331G>A | NP_001070833.1:p.Arg444His | |
| NM_001077366.1:c.1169G>A | NP_001070834.1:p.Arg390His | |
| NM_001136113.1:c.1331G>A | NP_001129585.1:p.Arg444His | |
| NM_001136114.1:c.980G>A | NP_001129586.1:p.Arg327His | |
| NM_007171.3:c.1397G>A | NP_009102.3:p.Arg466His | |
| XM_005272156.1:c.1397G>A | XP_005272213.1:p.Arg466His | |
| XM_005272158.1:c.1235G>A | XP_005272215.1:p.Arg412His | |
| XM_005272159.1:c.1046G>A | XP_005272216.1:p.Arg349His | |
| XM_005272162.1:c.200G>A | XP_005272219.1:p.Arg67His | |
| XM_006716932.1:c.1046G>A | XP_006716995.1:p.Arg349His | |
| XM_011518140.1:c.1250G>A | XP_011516442.1:p.Arg417His | |
| XM_011518141.1:c.1184G>A | XP_011516443.1:p.Arg395His | |
| XM_011518142.1:c.1088G>A | XP_011516444.1:p.Arg363His | |
| XM_011518143.1:c.1082G>A | XP_011516445.1:p.Arg361His | |
| XM_011518144.1:c.1397G>A | XP_011516446.1:p.Arg466His | |
| XM_011518145.1:c.941G>A | XP_011516447.1:p.Arg314His | |
| XM_011518146.1:c.1082G>A | XP_011516448.1:p.Arg361His | |
| XM_011518147.1:c.269G>A | XP_011516449.1:p.Arg90His | |
| XR_929703.1:n.1573G>A | ||
| NM_001353193.1:c.1397G>A | NP_001340122.1:p.Arg466His | |
| NM_001353194.1:c.1169G>A | NP_001340123.1:p.Arg390His | |
| NM_001353195.1:c.980G>A | NP_001340124.1:p.Arg327His | |
| NM_001353196.1:c.1241G>A | NP_001340125.1:p.Arg414His | |
| NM_001353197.1:c.1235G>A | NP_001340126.1:p.Arg412His | |
| NM_001353198.1:c.1235G>A | NP_001340127.1:p.Arg412His | |
| NM_001353199.1:c.1046G>A | NP_001340128.1:p.Arg349His | |
| NM_001353200.1:c.875G>A | NP_001340129.1:p.Arg292His | |
| NR_148391.1:n.1381G>A | ||
| NR_148392.1:n.1599G>A | ||
| NR_148393.1:n.1381G>A | ||
| NR_148394.1:n.1274G>A | ||
| NR_148395.1:n.1533G>A | ||
| NR_148396.1:n.1167G>A | ||
| NR_148397.1:n.1431G>A | ||
| NR_148398.1:n.1386G>A | ||
| NR_148399.1:n.1773G>A | ||
| NR_148400.1:n.1372G>A | ||
| XM_005272162.3:c.200G>A | XP_005272219.1:p.Arg67His | |
| XM_006716932.2:c.1046G>A | XP_006716995.1:p.Arg349His | |
| XM_011518140.2:c.1250G>A | XP_011516442.1:p.Arg417His | |
| XM_011518141.2:c.1184G>A | XP_011516443.1:p.Arg395His | |
| XM_011518142.2:c.1088G>A | XP_011516444.1:p.Arg363His | |
| XM_011518143.2:c.1082G>A | XP_011516445.1:p.Arg361His | |
| XM_011518145.2:c.941G>A | XP_011516447.1:p.Arg314His | |
| XM_017014205.2:c.200G>A | XP_016869694.1:p.Arg67His | |
| XM_024447380.1:c.200G>A | XP_024303148.1:p.Arg67His | |
| XM_024447381.1:c.506G>A | XP_024303149.1:p.Arg169His | |
| XM_024447382.1:c.200G>A | XP_024303150.1:p.Arg67His | |
| XR_001746160.2:n.1501G>A | ||
| XR_001746162.2:n.1567G>A | ||
| XR_001746164.1:n.1284G>A | ||
| XR_001746166.2:n.1718G>A | ||
| NM_001077365.2:c.1331G>A MANE Select | NP_001070833.1:p.Arg444His | |
| NM_001077366.2:c.1169G>A | NP_001070834.1:p.Arg390His | |
| NM_001136113.2:c.1331G>A | NP_001129585.1:p.Arg444His | |
| NM_001136114.2:c.980G>A | NP_001129586.1:p.Arg327His | |
| NM_001353193.2:c.1397G>A | NP_001340122.2:p.Arg466His | |
| NM_001353194.2:c.1169G>A | NP_001340123.1:p.Arg390His | |
| NM_001353195.2:c.980G>A | NP_001340124.1:p.Arg327His | |
| NM_001353196.2:c.1241G>A | NP_001340125.1:p.Arg414His | |
| NM_001353197.2:c.1235G>A | NP_001340126.2:p.Arg412His | |
| NM_001353198.2:c.1235G>A | NP_001340127.2:p.Arg412His | |
| NM_001353199.2:c.1046G>A | NP_001340128.2:p.Arg349His | |
| NM_001353200.2:c.875G>A | NP_001340129.1:p.Arg292His | |
| NM_001374689.1:c.1319G>A | NP_001361618.1:p.Arg440His | |
| NM_001374690.1:c.1331G>A | NP_001361619.1:p.Arg444His | |
| NM_001374691.1:c.980G>A | NP_001361620.1:p.Arg327His | |
| NM_001374692.1:c.980G>A | NP_001361621.1:p.Arg327His | |
| NM_001374693.1:c.980G>A | NP_001361622.1:p.Arg327His | |
| NM_001374695.1:c.941G>A | NP_001361624.1:p.Arg314His | |
| NM_007171.4:c.1397G>A | NP_009102.4:p.Arg466His | |
| NR_148391.2:n.1365G>A | ||
| NR_148392.2:n.1583G>A | ||
| NR_148393.2:n.1365G>A | ||
| NR_148394.2:n.1258G>A | ||
| NR_148395.2:n.1517G>A | ||
| NR_148396.2:n.1151G>A | ||
| NR_148397.2:n.1415G>A | ||
| NR_148398.2:n.1370G>A | ||
| NR_148399.2:n.1757G>A | ||
| NR_148400.2:n.1356G>A |