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:
1040150
dbSNP Id:
rs761293717
ExAC:
9:134388670 G / A
gnomAD v2:
9-134388670-G-A
gnomAD v3:
9-131513283-G-A
gnomAD v4:
9-131513283-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.131513283G>A , CM000671.2:g.131513283G>A | GRCh38 |
| NC_000009.11:g.134388670G>A , CM000671.1:g.134388670G>A | GRCh37 |
| NC_000009.10:g.133378491G>A | NCBI36 |
| NG_008896.1:g.15382G>A | |
| NG_008896.2:g.15382G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000341012.13:c.965G>A | ENSP00000343034.7:p.Gly322Glu | |
| ENST00000404875.7:n.1667G>A | ||
| ENST00000423007.6:c.1184G>A | ENSP00000404119.2:p.Gly395Glu | |
| ENST00000677295.2:c.*1471G>A | ENSP00000504346.2:n.*1471G>A | |
| ENST00000678264.2:c.*1310G>A | ENSP00000503157.2:n.*1310G>A | |
| ENST00000682070.1:n.1592G>A | ||
| ENST00000682813.1:n.1392G>A | ||
| ENST00000683392.1:n.3874G>A | ||
| ENST00000683712.1:n.1532G>A | ||
| ENST00000683900.1:n.3027G>A | ||
| ENST00000684062.1:n.1793G>A | ||
| ENST00000684579.1:n.2973G>A | ||
| ENST00000341012.12:c.965G>A | ENSP00000343034.7:p.Gly322Glu | |
| ENST00000372220.5:c.-5G>A | ENSP00000361294.5:n.-5G>A | |
| ENST00000372228.9:c.1193G>A | ENSP00000361302.3:p.Gly398Glu | |
| ENST00000402686.8:c.1127G>A MANE Select | ENSP00000385797.4:p.Gly376Glu | |
| ENST00000676640.1:c.1127G>A | ENSP00000503281.1:p.Gly376Glu | |
| ENST00000676803.1:c.302G>A | ENSP00000503093.1:p.Gly101Glu | |
| ENST00000676835.1:c.*342G>A | ENSP00000502911.1:n.*342G>A | |
| ENST00000677029.1:c.671G>A | ENSP00000502936.1:p.Gly224Glu | |
| ENST00000677099.1:c.*837G>A | ENSP00000504553.1:n.*837G>A | |
| ENST00000677216.1:c.776G>A | ENSP00000503772.1:p.Gly259Glu | |
| ENST00000677293.1:c.302G>A | ENSP00000504278.1:p.Gly101Glu | |
| ENST00000677295.1:c.*504G>A | ENSP00000504346.1:n.*504G>A | |
| ENST00000677444.1:c.933G>A | ||
| ENST00000677586.1:n.608G>A | ||
| ENST00000677626.1:c.824+1816G>A | ENSP00000503552.1:n.824+1816G>A | |
| ENST00000677677.1:n.1087G>A | ||
| ENST00000677853.1:c.*135G>A | ENSP00000503488.1:n.*135G>A | |
| ENST00000677944.1:c.389G>A | ||
| ENST00000678264.1:c.*504G>A | ENSP00000503157.1:n.*504G>A | |
| ENST00000678303.1:c.1037G>A | ENSP00000503696.1:p.Gly346Glu | |
| ENST00000678366.1:c.*1376G>A | ENSP00000504353.1:n.*1376G>A | |
| ENST00000678546.1:c.*1072G>A | ENSP00000503062.1:n.*1072G>A | |
| ENST00000678548.1:c.*1199G>A | ENSP00000503934.1:n.*1199G>A | |
| ENST00000678626.1:n.824G>A | ||
| ENST00000678733.1:c.256+1147G>A | ||
| ENST00000678739.1:c.*1453G>A | ENSP00000503806.1:n.*1453G>A | |
| ENST00000678795.1:n.214G>A | ||
| ENST00000678833.1:c.*574G>A | ENSP00000503893.1:n.*574G>A | |
| ENST00000678942.1:c.307G>A | ENSP00000504690.1:n.307G>A | |
| ENST00000679023.1:c.965G>A | ENSP00000503718.1:p.Gly322Glu | |
| ENST00000679073.1:c.505G>A | ENSP00000504356.1:n.505G>A | |
| ENST00000679076.1:c.746G>A | ||
| ENST00000679111.1:c.1127G>A | ENSP00000504257.1:p.Gly376Glu | |
| ENST00000679189.1:c.776G>A | ENSP00000503356.1:p.Gly259Glu | |
| ENST00000341012.11:c.965G>A | ENSP00000343034.7:p.Gly322Glu | |
| ENST00000372228.7:c.1193G>A | ENSP00000361302.3:p.Gly398Glu | |
| ENST00000402686.7:c.1127G>A | ENSP00000385797.3:p.Gly376Glu | |
| ENST00000404875.6:c.776G>A | ENSP00000384531.2:p.Gly259Glu | |
| ENST00000423007.5:c.1127G>A | ENSP00000404119.1:p.Gly376Glu | |
| ENST00000441334.5:c.842G>A | ENSP00000395060.1:p.Gly281Glu | |
| ENST00000462375.5:n.953G>A | ||
| ENST00000485278.5:n.1682G>A | ||
| NM_001077365.1:c.1127G>A | NP_001070833.1:p.Gly376Glu | |
| NM_001077366.1:c.965G>A | NP_001070834.1:p.Gly322Glu | |
| NM_001136113.1:c.1127G>A | NP_001129585.1:p.Gly376Glu | |
| NM_001136114.1:c.776G>A | NP_001129586.1:p.Gly259Glu | |
| NM_007171.3:c.1193G>A | NP_009102.3:p.Gly398Glu | |
| XM_005272156.1:c.1193G>A | XP_005272213.1:p.Gly398Glu | |
| XM_005272158.1:c.1031G>A | XP_005272215.1:p.Gly344Glu | |
| XM_005272159.1:c.842G>A | XP_005272216.1:p.Gly281Glu | |
| XM_005272162.1:c.-5G>A | XP_005272219.1:n.-5G>A | |
| XM_006716932.1:c.842G>A | XP_006716995.1:p.Gly281Glu | |
| XM_011518140.1:c.1046G>A | XP_011516442.1:p.Gly349Glu | |
| XM_011518141.1:c.980G>A | XP_011516443.1:p.Gly327Glu | |
| XM_011518142.1:c.884G>A | XP_011516444.1:p.Gly295Glu | |
| XM_011518143.1:c.878G>A | XP_011516445.1:p.Gly293Glu | |
| XM_011518144.1:c.1193G>A | XP_011516446.1:p.Gly398Glu | |
| XM_011518145.1:c.737G>A | XP_011516447.1:p.Gly246Glu | |
| XM_011518146.1:c.878G>A | XP_011516448.1:p.Gly293Glu | |
| XR_929703.1:n.1369G>A | ||
| NM_001353193.1:c.1193G>A | NP_001340122.1:p.Gly398Glu | |
| NM_001353194.1:c.965G>A | NP_001340123.1:p.Gly322Glu | |
| NM_001353195.1:c.776G>A | NP_001340124.1:p.Gly259Glu | |
| NM_001353196.1:c.1037G>A | NP_001340125.1:p.Gly346Glu | |
| NM_001353197.1:c.1031G>A | NP_001340126.1:p.Gly344Glu | |
| NM_001353198.1:c.1031G>A | NP_001340127.1:p.Gly344Glu | |
| NM_001353199.1:c.842G>A | NP_001340128.1:p.Gly281Glu | |
| NM_001353200.1:c.671G>A | NP_001340129.1:p.Gly224Glu | |
| NR_148391.1:n.1177G>A | ||
| NR_148392.1:n.1395G>A | ||
| NR_148393.1:n.1177G>A | ||
| NR_148394.1:n.1070G>A | ||
| NR_148395.1:n.1329G>A | ||
| NR_148396.1:n.963G>A | ||
| NR_148397.1:n.1227G>A | ||
| NR_148398.1:n.1182G>A | ||
| NR_148399.1:n.1569G>A | ||
| NR_148400.1:n.1168G>A | ||
| XM_005272162.3:c.-5G>A | XP_005272219.1:n.-5G>A | |
| XM_006716932.2:c.842G>A | XP_006716995.1:p.Gly281Glu | |
| XM_011518140.2:c.1046G>A | XP_011516442.1:p.Gly349Glu | |
| XM_011518141.2:c.980G>A | XP_011516443.1:p.Gly327Glu | |
| XM_011518142.2:c.884G>A | XP_011516444.1:p.Gly295Glu | |
| XM_011518143.2:c.878G>A | XP_011516445.1:p.Gly293Glu | |
| XM_011518145.2:c.737G>A | XP_011516447.1:p.Gly246Glu | |
| XM_017014205.2:c.-5G>A | XP_016869694.1:n.-5G>A | |
| XM_024447380.1:c.-5G>A | XP_024303148.1:n.-5G>A | |
| XM_024447381.1:c.302G>A | XP_024303149.1:p.Gly101Glu | |
| XM_024447382.1:c.-5G>A | XP_024303150.1:n.-5G>A | |
| XR_001746160.2:n.1297G>A | ||
| XR_001746162.2:n.1363G>A | ||
| XR_001746164.1:n.1080G>A | ||
| XR_001746166.2:n.1514G>A | ||
| NM_001077365.2:c.1127G>A MANE Select | NP_001070833.1:p.Gly376Glu | |
| NM_001077366.2:c.965G>A | NP_001070834.1:p.Gly322Glu | |
| NM_001136113.2:c.1127G>A | NP_001129585.1:p.Gly376Glu | |
| NM_001136114.2:c.776G>A | NP_001129586.1:p.Gly259Glu | |
| NM_001353193.2:c.1193G>A | NP_001340122.2:p.Gly398Glu | |
| NM_001353194.2:c.965G>A | NP_001340123.1:p.Gly322Glu | |
| NM_001353195.2:c.776G>A | NP_001340124.1:p.Gly259Glu | |
| NM_001353196.2:c.1037G>A | NP_001340125.1:p.Gly346Glu | |
| NM_001353197.2:c.1031G>A | NP_001340126.2:p.Gly344Glu | |
| NM_001353198.2:c.1031G>A | NP_001340127.2:p.Gly344Glu | |
| NM_001353199.2:c.842G>A | NP_001340128.2:p.Gly281Glu | |
| NM_001353200.2:c.671G>A | NP_001340129.1:p.Gly224Glu | |
| NM_001374689.1:c.1115G>A | NP_001361618.1:p.Gly372Glu | |
| NM_001374690.1:c.1127G>A | NP_001361619.1:p.Gly376Glu | |
| NM_001374691.1:c.776G>A | NP_001361620.1:p.Gly259Glu | |
| NM_001374692.1:c.776G>A | NP_001361621.1:p.Gly259Glu | |
| NM_001374693.1:c.824+1816G>A | NP_001361622.1:n.824+1816G>A | |
| NM_001374695.1:c.737G>A | NP_001361624.1:p.Gly246Glu | |
| NM_007171.4:c.1193G>A | NP_009102.4:p.Gly398Glu | |
| NR_148391.2:n.1161G>A | ||
| NR_148392.2:n.1379G>A | ||
| NR_148393.2:n.1161G>A | ||
| NR_148394.2:n.1054G>A | ||
| NR_148395.2:n.1313G>A | ||
| NR_148396.2:n.947G>A | ||
| NR_148397.2:n.1211G>A | ||
| NR_148398.2:n.1166G>A | ||
| NR_148399.2:n.1553G>A | ||
| NR_148400.2:n.1152G>A |