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:
rs747510067
ExAC:
9:134393896 T / C
gnomAD v3:
9-131518509-T-C
gnomAD v4:
9-131518509-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.131518509T>C , CM000671.2:g.131518509T>C | GRCh38 |
| NC_000009.11:g.134393896T>C , CM000671.1:g.134393896T>C | GRCh37 |
| NC_000009.10:g.133383717T>C | NCBI36 |
| NG_008896.1:g.20608T>C | |
| NG_008896.2:g.20608T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000341012.13:c.1175T>C | ENSP00000343034.7:p.Val392Ala | |
| ENST00000404875.7:n.1877T>C | ||
| ENST00000423007.6:c.1394T>C | ENSP00000404119.2:p.Val465Ala | |
| ENST00000677295.2:c.*1681T>C | ENSP00000504346.2:n.*1681T>C | |
| ENST00000678264.2:c.*1520T>C | ENSP00000503157.2:n.*1520T>C | |
| ENST00000682070.1:n.1802T>C | ||
| ENST00000682535.1:n.109T>C | ||
| ENST00000682539.1:c.275T>C | ||
| ENST00000682813.1:n.1602T>C | ||
| ENST00000683110.1:n.65T>C | ||
| ENST00000683392.1:n.4084T>C | ||
| ENST00000683712.1:n.1742T>C | ||
| ENST00000683900.1:n.3237T>C | ||
| ENST00000684062.1:n.2003T>C | ||
| ENST00000684579.1:n.3183T>C | ||
| ENST00000684679.1:n.564T>C | ||
| ENST00000341012.12:c.1175T>C | ENSP00000343034.7:p.Val392Ala | |
| ENST00000372220.5:c.206T>C | ENSP00000361294.5:p.Val69Ala | |
| ENST00000372228.9:c.1403T>C | ENSP00000361302.3:p.Val468Ala | |
| ENST00000402686.8:c.1337T>C MANE Select | ENSP00000385797.4:p.Val446Ala | |
| ENST00000676640.1:c.1337T>C | ENSP00000503281.1:p.Val446Ala | |
| ENST00000676803.1:c.512T>C | ENSP00000503093.1:p.Val171Ala | |
| ENST00000676835.1:c.*552T>C | ENSP00000502911.1:n.*552T>C | |
| ENST00000677029.1:c.881T>C | ENSP00000502936.1:p.Val294Ala | |
| ENST00000677099.1:c.*1047T>C | ENSP00000504553.1:n.*1047T>C | |
| ENST00000677216.1:c.986T>C | ENSP00000503772.1:p.Val329Ala | |
| ENST00000677221.1:n.362T>C | ||
| ENST00000677295.1:c.*714T>C | ENSP00000504346.1:n.*714T>C | |
| ENST00000677444.1:c.1143T>C | ||
| ENST00000677586.1:n.818T>C | ||
| ENST00000677626.1:c.986T>C | ENSP00000503552.1:p.Val329Ala | |
| ENST00000677677.1:n.1297T>C | ||
| ENST00000677853.1:c.*345T>C | ENSP00000503488.1:n.*345T>C | |
| ENST00000677983.1:n.426T>C | ||
| ENST00000678202.1:n.357T>C | ||
| ENST00000678264.1:c.*714T>C | ENSP00000503157.1:n.*714T>C | |
| ENST00000678303.1:c.1247T>C | ENSP00000503696.1:p.Val416Ala | |
| ENST00000678366.1:c.*1586T>C | ENSP00000504353.1:n.*1586T>C | |
| ENST00000678546.1:c.*1282T>C | ENSP00000503062.1:n.*1282T>C | |
| ENST00000678548.1:c.*1409T>C | ENSP00000503934.1:n.*1409T>C | |
| ENST00000678626.1:n.1034T>C | ||
| ENST00000678733.1:c.418T>C | ||
| ENST00000678739.1:c.*1663T>C | ENSP00000503806.1:n.*1663T>C | |
| ENST00000678795.1:n.424T>C | ||
| ENST00000678833.1:c.*784T>C | ENSP00000503893.1:n.*784T>C | |
| ENST00000678942.1:c.517T>C | ENSP00000504690.1:n.517T>C | |
| ENST00000679023.1:c.1175T>C | ENSP00000503718.1:p.Val392Ala | |
| ENST00000679076.1:c.956T>C | ||
| ENST00000679111.1:c.1337T>C | ENSP00000504257.1:p.Val446Ala | |
| ENST00000679189.1:c.986T>C | ENSP00000503356.1:p.Val329Ala | |
| ENST00000341012.11:c.1175T>C | ENSP00000343034.7:p.Val392Ala | |
| ENST00000372220.4:c.200T>C | ENSP00000361294.4:p.Val67Ala | |
| ENST00000372228.7:c.1403T>C | ENSP00000361302.3:p.Val468Ala | |
| ENST00000402686.7:c.1337T>C | ENSP00000385797.3:p.Val446Ala | |
| ENST00000404875.6:c.986T>C | ENSP00000384531.2:p.Val329Ala | |
| ENST00000423007.5:c.1337T>C | ENSP00000404119.1:p.Val446Ala | |
| ENST00000485278.5:n.1892T>C | ||
| NM_001077365.1:c.1337T>C | NP_001070833.1:p.Val446Ala | |
| NM_001077366.1:c.1175T>C | NP_001070834.1:p.Val392Ala | |
| NM_001136113.1:c.1337T>C | NP_001129585.1:p.Val446Ala | |
| NM_001136114.1:c.986T>C | NP_001129586.1:p.Val329Ala | |
| NM_007171.3:c.1403T>C | NP_009102.3:p.Val468Ala | |
| XM_005272156.1:c.1403T>C | XP_005272213.1:p.Val468Ala | |
| XM_005272158.1:c.1241T>C | XP_005272215.1:p.Val414Ala | |
| XM_005272159.1:c.1052T>C | XP_005272216.1:p.Val351Ala | |
| XM_005272162.1:c.206T>C | XP_005272219.1:p.Val69Ala | |
| XM_006716932.1:c.1052T>C | XP_006716995.1:p.Val351Ala | |
| XM_011518140.1:c.1256T>C | XP_011516442.1:p.Val419Ala | |
| XM_011518141.1:c.1190T>C | XP_011516443.1:p.Val397Ala | |
| XM_011518142.1:c.1094T>C | XP_011516444.1:p.Val365Ala | |
| XM_011518143.1:c.1088T>C | XP_011516445.1:p.Val363Ala | |
| XM_011518144.1:c.1403T>C | XP_011516446.1:p.Val468Ala | |
| XM_011518145.1:c.947T>C | XP_011516447.1:p.Val316Ala | |
| XM_011518146.1:c.1088T>C | XP_011516448.1:p.Val363Ala | |
| XM_011518147.1:c.275T>C | XP_011516449.1:p.Val92Ala | |
| XR_929703.1:n.1579T>C | ||
| NM_001353193.1:c.1403T>C | NP_001340122.1:p.Val468Ala | |
| NM_001353194.1:c.1175T>C | NP_001340123.1:p.Val392Ala | |
| NM_001353195.1:c.986T>C | NP_001340124.1:p.Val329Ala | |
| NM_001353196.1:c.1247T>C | NP_001340125.1:p.Val416Ala | |
| NM_001353197.1:c.1241T>C | NP_001340126.1:p.Val414Ala | |
| NM_001353198.1:c.1241T>C | NP_001340127.1:p.Val414Ala | |
| NM_001353199.1:c.1052T>C | NP_001340128.1:p.Val351Ala | |
| NM_001353200.1:c.881T>C | NP_001340129.1:p.Val294Ala | |
| NR_148391.1:n.1387T>C | ||
| NR_148392.1:n.1605T>C | ||
| NR_148393.1:n.1387T>C | ||
| NR_148394.1:n.1280T>C | ||
| NR_148395.1:n.1539T>C | ||
| NR_148396.1:n.1173T>C | ||
| NR_148397.1:n.1437T>C | ||
| NR_148398.1:n.1392T>C | ||
| NR_148399.1:n.1779T>C | ||
| NR_148400.1:n.1378T>C | ||
| XM_005272162.3:c.206T>C | XP_005272219.1:p.Val69Ala | |
| XM_006716932.2:c.1052T>C | XP_006716995.1:p.Val351Ala | |
| XM_011518140.2:c.1256T>C | XP_011516442.1:p.Val419Ala | |
| XM_011518141.2:c.1190T>C | XP_011516443.1:p.Val397Ala | |
| XM_011518142.2:c.1094T>C | XP_011516444.1:p.Val365Ala | |
| XM_011518143.2:c.1088T>C | XP_011516445.1:p.Val363Ala | |
| XM_011518145.2:c.947T>C | XP_011516447.1:p.Val316Ala | |
| XM_017014205.2:c.206T>C | XP_016869694.1:p.Val69Ala | |
| XM_024447380.1:c.206T>C | XP_024303148.1:p.Val69Ala | |
| XM_024447381.1:c.512T>C | XP_024303149.1:p.Val171Ala | |
| XM_024447382.1:c.206T>C | XP_024303150.1:p.Val69Ala | |
| XR_001746160.2:n.1507T>C | ||
| XR_001746162.2:n.1573T>C | ||
| XR_001746164.1:n.1290T>C | ||
| XR_001746166.2:n.1724T>C | ||
| NM_001077365.2:c.1337T>C MANE Select | NP_001070833.1:p.Val446Ala | |
| NM_001077366.2:c.1175T>C | NP_001070834.1:p.Val392Ala | |
| NM_001136113.2:c.1337T>C | NP_001129585.1:p.Val446Ala | |
| NM_001136114.2:c.986T>C | NP_001129586.1:p.Val329Ala | |
| NM_001353193.2:c.1403T>C | NP_001340122.2:p.Val468Ala | |
| NM_001353194.2:c.1175T>C | NP_001340123.1:p.Val392Ala | |
| NM_001353195.2:c.986T>C | NP_001340124.1:p.Val329Ala | |
| NM_001353196.2:c.1247T>C | NP_001340125.1:p.Val416Ala | |
| NM_001353197.2:c.1241T>C | NP_001340126.2:p.Val414Ala | |
| NM_001353198.2:c.1241T>C | NP_001340127.2:p.Val414Ala | |
| NM_001353199.2:c.1052T>C | NP_001340128.2:p.Val351Ala | |
| NM_001353200.2:c.881T>C | NP_001340129.1:p.Val294Ala | |
| NM_001374689.1:c.1325T>C | NP_001361618.1:p.Val442Ala | |
| NM_001374690.1:c.1337T>C | NP_001361619.1:p.Val446Ala | |
| NM_001374691.1:c.986T>C | NP_001361620.1:p.Val329Ala | |
| NM_001374692.1:c.986T>C | NP_001361621.1:p.Val329Ala | |
| NM_001374693.1:c.986T>C | NP_001361622.1:p.Val329Ala | |
| NM_001374695.1:c.947T>C | NP_001361624.1:p.Val316Ala | |
| NM_007171.4:c.1403T>C | NP_009102.4:p.Val468Ala | |
| NR_148391.2:n.1371T>C | ||
| NR_148392.2:n.1589T>C | ||
| NR_148393.2:n.1371T>C | ||
| NR_148394.2:n.1264T>C | ||
| NR_148395.2:n.1523T>C | ||
| NR_148396.2:n.1157T>C | ||
| NR_148397.2:n.1421T>C | ||
| NR_148398.2:n.1376T>C | ||
| NR_148399.2:n.1763T>C | ||
| NR_148400.2:n.1362T>C |