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
dbSNP Id:
rs781372818
ExAC:
9:134397469 T / G
gnomAD v2:
9-134397469-T-G
gnomAD v3:
9-131522082-T-G
gnomAD v4:
9-131522082-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.131522082T>G , CM000671.2:g.131522082T>G | GRCh38 |
| NC_000009.11:g.134397469T>G , CM000671.1:g.134397469T>G | GRCh37 |
| NC_000009.10:g.133387290T>G | NCBI36 |
| NG_008896.1:g.24181T>G | |
| NG_008896.2:g.24181T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000341012.13:c.1699T>G | ENSP00000343034.7:p.Cys567Gly | |
| ENST00000404875.7:n.2401T>G | ||
| ENST00000423007.6:c.1918T>G | ENSP00000404119.2:p.Cys640Gly | |
| ENST00000677295.2:c.*2205T>G | ENSP00000504346.2:n.*2205T>G | |
| ENST00000678264.2:c.*2044T>G | ENSP00000503157.2:n.*2044T>G | |
| ENST00000682070.1:n.2291-120T>G | ||
| ENST00000682813.1:n.2265T>G | ||
| ENST00000683392.1:n.4573-120T>G | ||
| ENST00000683712.1:n.2266T>G | ||
| ENST00000683900.1:n.3761T>G | ||
| ENST00000684062.1:n.2527T>G | ||
| ENST00000684579.1:n.3707T>G | ||
| ENST00000684679.1:n.1088T>G | ||
| ENST00000341012.12:c.1699T>G | ENSP00000343034.7:p.Cys567Gly | |
| ENST00000372220.5:c.730T>G | ENSP00000361294.5:p.Cys244Gly | |
| ENST00000372228.9:c.1927T>G | ENSP00000361302.3:p.Cys643Gly | |
| ENST00000402686.8:c.1861T>G MANE Select | ENSP00000385797.4:p.Cys621Gly | |
| ENST00000676640.1:c.1861T>G | ENSP00000503281.1:p.Cys621Gly | |
| ENST00000676803.1:c.922T>G | ENSP00000503093.1:p.Cys308Gly | |
| ENST00000676835.1:c.*1076T>G | ENSP00000502911.1:n.*1076T>G | |
| ENST00000677029.1:c.1405T>G | ENSP00000502936.1:p.Cys469Gly | |
| ENST00000677099.1:c.*1571T>G | ENSP00000504553.1:n.*1571T>G | |
| ENST00000677216.1:c.1510T>G | ENSP00000503772.1:p.Cys504Gly | |
| ENST00000677221.1:n.886T>G | ||
| ENST00000677295.1:c.*1203-120T>G | ENSP00000504346.1:n.*1203-120T>G | |
| ENST00000677444.1:c.1806T>G | ||
| ENST00000677586.1:n.1228T>G | ||
| ENST00000677626.1:c.1510T>G | ENSP00000503552.1:p.Cys504Gly | |
| ENST00000677853.1:c.*869T>G | ENSP00000503488.1:n.*869T>G | |
| ENST00000678202.1:n.1020T>G | ||
| ENST00000678264.1:c.*1238T>G | ENSP00000503157.1:n.*1238T>G | |
| ENST00000678303.1:c.1771T>G | ENSP00000503696.1:p.Cys591Gly | |
| ENST00000678366.1:c.*2110T>G | ENSP00000504353.1:n.*2110T>G | |
| ENST00000678546.1:c.*1806T>G | ENSP00000503062.1:n.*1806T>G | |
| ENST00000678548.1:c.*2000T>G | ENSP00000503934.1:n.*2000T>G | |
| ENST00000678626.1:n.1697T>G | ||
| ENST00000678739.1:c.*2147-120T>G | ENSP00000503806.1:n.*2147-120T>G | |
| ENST00000678833.1:c.*1613T>G | ENSP00000503893.1:n.*1613T>G | |
| ENST00000679023.1:c.1699T>G | ENSP00000503718.1:p.Cys567Gly | |
| ENST00000679076.1:c.1480T>G | ||
| ENST00000679111.1:c.*617T>G | ENSP00000504257.1:n.*617T>G | |
| ENST00000679189.1:c.1510T>G | ENSP00000503356.1:p.Cys504Gly | |
| ENST00000341012.11:c.1699T>G | ENSP00000343034.7:p.Cys567Gly | |
| ENST00000372220.4:c.724T>G | ENSP00000361294.4:p.Cys242Gly | |
| ENST00000372228.7:c.1927T>G | ENSP00000361302.3:p.Cys643Gly | |
| ENST00000402686.7:c.1861T>G | ENSP00000385797.3:p.Cys621Gly | |
| ENST00000404875.6:c.1510T>G | ENSP00000384531.2:p.Cys504Gly | |
| ENST00000423007.5:c.1861T>G | ENSP00000404119.1:p.Cys621Gly | |
| ENST00000485278.5:n.2411T>G | ||
| ENST00000494883.1:n.404T>G | ||
| NM_001077365.1:c.1861T>G | NP_001070833.1:p.Cys621Gly | |
| NM_001077366.1:c.1699T>G | NP_001070834.1:p.Cys567Gly | |
| NM_001136113.1:c.1861T>G | NP_001129585.1:p.Cys621Gly | |
| NM_001136114.1:c.1510T>G | NP_001129586.1:p.Cys504Gly | |
| NM_007171.3:c.1927T>G | NP_009102.3:p.Cys643Gly | |
| XM_005272156.1:c.1927T>G | XP_005272213.1:p.Cys643Gly | |
| XM_005272158.1:c.1765T>G | XP_005272215.1:p.Cys589Gly | |
| XM_005272159.1:c.1576T>G | XP_005272216.1:p.Cys526Gly | |
| XM_005272162.1:c.730T>G | XP_005272219.1:p.Cys244Gly | |
| XM_006716932.1:c.1576T>G | XP_006716995.1:p.Cys526Gly | |
| XM_011518140.1:c.1780T>G | XP_011516442.1:p.Cys594Gly | |
| XM_011518141.1:c.1714T>G | XP_011516443.1:p.Cys572Gly | |
| XM_011518142.1:c.1618T>G | XP_011516444.1:p.Cys540Gly | |
| XM_011518143.1:c.1612T>G | XP_011516445.1:p.Cys538Gly | |
| XM_011518145.1:c.1471T>G | XP_011516447.1:p.Cys491Gly | |
| XM_011518147.1:c.799T>G | XP_011516449.1:p.Cys267Gly | |
| XR_929703.1:n.2103T>G | ||
| NM_001353193.1:c.1927T>G | NP_001340122.1:p.Cys643Gly | |
| NM_001353194.1:c.1699T>G | NP_001340123.1:p.Cys567Gly | |
| NM_001353195.1:c.1510T>G | NP_001340124.1:p.Cys504Gly | |
| NM_001353196.1:c.1771T>G | NP_001340125.1:p.Cys591Gly | |
| NM_001353197.1:c.1765T>G | NP_001340126.1:p.Cys589Gly | |
| NM_001353198.1:c.1765T>G | NP_001340127.1:p.Cys589Gly | |
| NM_001353199.1:c.1576T>G | NP_001340128.1:p.Cys526Gly | |
| NM_001353200.1:c.1405T>G | NP_001340129.1:p.Cys469Gly | |
| NR_148391.1:n.1911T>G | ||
| NR_148392.1:n.2129T>G | ||
| NR_148393.1:n.2050T>G | ||
| NR_148394.1:n.1804T>G | ||
| NR_148395.1:n.2202T>G | ||
| NR_148396.1:n.1836T>G | ||
| NR_148397.1:n.1961T>G | ||
| NR_148398.1:n.1916T>G | ||
| NR_148399.1:n.2442T>G | ||
| NR_148400.1:n.2041T>G | ||
| XM_005272162.3:c.730T>G | XP_005272219.1:p.Cys244Gly | |
| XM_006716932.2:c.1576T>G | XP_006716995.1:p.Cys526Gly | |
| XM_011518140.2:c.1780T>G | XP_011516442.1:p.Cys594Gly | |
| XM_011518141.2:c.1714T>G | XP_011516443.1:p.Cys572Gly | |
| XM_011518142.2:c.1618T>G | XP_011516444.1:p.Cys540Gly | |
| XM_011518143.2:c.1612T>G | XP_011516445.1:p.Cys538Gly | |
| XM_011518145.2:c.1471T>G | XP_011516447.1:p.Cys491Gly | |
| XM_017014205.2:c.730T>G | XP_016869694.1:p.Cys244Gly | |
| XM_024447380.1:c.730T>G | XP_024303148.1:p.Cys244Gly | |
| XM_024447381.1:c.1036T>G | XP_024303149.1:p.Cys346Gly | |
| XM_024447382.1:c.730T>G | XP_024303150.1:p.Cys244Gly | |
| XR_001746160.2:n.2031T>G | ||
| XR_001746162.2:n.2236T>G | ||
| XR_001746164.1:n.1953T>G | ||
| XR_001746166.2:n.2248T>G | ||
| NM_001077365.2:c.1861T>G MANE Select | NP_001070833.1:p.Cys621Gly | |
| NM_001077366.2:c.1699T>G | NP_001070834.1:p.Cys567Gly | |
| NM_001136113.2:c.1861T>G | NP_001129585.1:p.Cys621Gly | |
| NM_001136114.2:c.1510T>G | NP_001129586.1:p.Cys504Gly | |
| NM_001353193.2:c.1927T>G | NP_001340122.2:p.Cys643Gly | |
| NM_001353194.2:c.1699T>G | NP_001340123.1:p.Cys567Gly | |
| NM_001353195.2:c.1510T>G | NP_001340124.1:p.Cys504Gly | |
| NM_001353196.2:c.1771T>G | NP_001340125.1:p.Cys591Gly | |
| NM_001353197.2:c.1765T>G | NP_001340126.2:p.Cys589Gly | |
| NM_001353198.2:c.1765T>G | NP_001340127.2:p.Cys589Gly | |
| NM_001353199.2:c.1576T>G | NP_001340128.2:p.Cys526Gly | |
| NM_001353200.2:c.1405T>G | NP_001340129.1:p.Cys469Gly | |
| NM_001374689.1:c.1849T>G | NP_001361618.1:p.Cys617Gly | |
| NM_001374690.1:c.1642T>G | NP_001361619.1:p.Cys548Gly | |
| NM_001374691.1:c.1510T>G | NP_001361620.1:p.Cys504Gly | |
| NM_001374692.1:c.1510T>G | NP_001361621.1:p.Cys504Gly | |
| NM_001374693.1:c.1510T>G | NP_001361622.1:p.Cys504Gly | |
| NM_001374695.1:c.1471T>G | NP_001361624.1:p.Cys491Gly | |
| NM_007171.4:c.1927T>G | NP_009102.4:p.Cys643Gly | |
| NR_148391.2:n.1895T>G | ||
| NR_148392.2:n.2113T>G | ||
| NR_148393.2:n.2034T>G | ||
| NR_148394.2:n.1788T>G | ||
| NR_148395.2:n.2186T>G | ||
| NR_148396.2:n.1820T>G | ||
| NR_148397.2:n.1945T>G | ||
| NR_148398.2:n.1900T>G | ||
| NR_148399.2:n.2426T>G | ||
| NR_148400.2:n.2025T>G |