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:
rs763113083
ExAC:
9:134398457 G / A
gnomAD v2:
9-134398457-G-A
gnomAD v4:
9-131523070-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.131523070G>A , CM000671.2:g.131523070G>A | GRCh38 |
| NC_000009.11:g.134398457G>A , CM000671.1:g.134398457G>A | GRCh37 |
| NC_000009.10:g.133388278G>A | NCBI36 |
| NG_008896.1:g.25169G>A | |
| NG_008896.2:g.25169G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000341012.13:c.1980G>A | ENSP00000343034.7:p.Trp660Ter | |
| ENST00000404875.7:n.2682G>A | ||
| ENST00000423007.6:c.2199G>A | ENSP00000404119.2:p.Trp733Ter | |
| ENST00000677295.2:c.*2486G>A | ENSP00000504346.2:n.*2486G>A | |
| ENST00000678264.2:c.*2325G>A | ENSP00000503157.2:n.*2325G>A | |
| ENST00000682070.1:n.2452G>A | ||
| ENST00000682639.1:c.139G>A | ||
| ENST00000682813.1:n.2539G>A | ||
| ENST00000683231.1:c.139G>A | ||
| ENST00000683392.1:n.4734G>A | ||
| ENST00000683712.1:n.2547G>A | ||
| ENST00000683900.1:n.4042G>A | ||
| ENST00000684062.1:n.2808G>A | ||
| ENST00000684399.1:c.139G>A | ||
| ENST00000684579.1:n.3988G>A | ||
| ENST00000341012.12:c.1980G>A | ENSP00000343034.7:p.Trp660Ter | |
| ENST00000372220.5:c.1011G>A | ENSP00000361294.5:p.Trp337Ter | |
| ENST00000372228.9:c.2208G>A | ENSP00000361302.3:p.Trp736Ter | |
| ENST00000402686.8:c.2142G>A MANE Select | ENSP00000385797.4:p.Trp714Ter | |
| ENST00000676640.1:c.2142G>A | ENSP00000503281.1:p.Trp714Ter | |
| ENST00000676803.1:c.1203G>A | ENSP00000503093.1:p.Trp401Ter | |
| ENST00000676835.1:c.*1357G>A | ENSP00000502911.1:n.*1357G>A | |
| ENST00000677029.1:c.1686G>A | ENSP00000502936.1:p.Trp562Ter | |
| ENST00000677099.1:c.*1852G>A | ENSP00000504553.1:n.*1852G>A | |
| ENST00000677216.1:c.1791G>A | ENSP00000503772.1:p.Trp597Ter | |
| ENST00000677295.1:c.*1364G>A | ENSP00000504346.1:n.*1364G>A | |
| ENST00000677444.1:c.2087G>A | ||
| ENST00000677586.1:n.1509G>A | ||
| ENST00000677626.1:c.1791G>A | ENSP00000503552.1:p.Trp597Ter | |
| ENST00000677853.1:c.*1150G>A | ENSP00000503488.1:n.*1150G>A | |
| ENST00000678264.1:c.*1519G>A | ENSP00000503157.1:n.*1519G>A | |
| ENST00000678303.1:c.2052G>A | ENSP00000503696.1:p.Trp684Ter | |
| ENST00000678366.1:c.*2391G>A | ENSP00000504353.1:n.*2391G>A | |
| ENST00000678546.1:c.*2087G>A | ENSP00000503062.1:n.*2087G>A | |
| ENST00000678548.1:c.*2281G>A | ENSP00000503934.1:n.*2281G>A | |
| ENST00000678626.1:n.1978G>A | ||
| ENST00000678739.1:c.*2308G>A | ENSP00000503806.1:n.*2308G>A | |
| ENST00000678833.1:c.*1894G>A | ENSP00000503893.1:n.*1894G>A | |
| ENST00000679023.1:c.1980G>A | ENSP00000503718.1:p.Trp660Ter | |
| ENST00000679076.1:c.1761G>A | ||
| ENST00000679111.1:c.*898G>A | ENSP00000504257.1:n.*898G>A | |
| ENST00000679189.1:c.1791G>A | ENSP00000503356.1:p.Trp597Ter | |
| ENST00000341012.11:c.1980G>A | ENSP00000343034.7:p.Trp660Ter | |
| ENST00000372220.4:c.1005G>A | ENSP00000361294.4:p.Trp335Ter | |
| ENST00000372228.7:c.2208G>A | ENSP00000361302.3:p.Trp736Ter | |
| ENST00000402686.7:c.2142G>A | ENSP00000385797.3:p.Trp714Ter | |
| ENST00000404875.6:c.1791G>A | ENSP00000384531.2:p.Trp597Ter | |
| ENST00000423007.5:c.2142G>A | ENSP00000404119.1:p.Trp714Ter | |
| ENST00000485278.5:n.2692G>A | ||
| NM_001077365.1:c.2142G>A | NP_001070833.1:p.Trp714Ter | |
| NM_001077366.1:c.1980G>A | NP_001070834.1:p.Trp660Ter | |
| NM_001136113.1:c.2142G>A | NP_001129585.1:p.Trp714Ter | |
| NM_001136114.1:c.1791G>A | NP_001129586.1:p.Trp597Ter | |
| NM_007171.3:c.2208G>A | NP_009102.3:p.Trp736Ter | |
| XM_005272156.1:c.2208G>A | XP_005272213.1:p.Trp736Ter | |
| XM_005272158.1:c.2046G>A | XP_005272215.1:p.Trp682Ter | |
| XM_005272159.1:c.1857G>A | XP_005272216.1:p.Trp619Ter | |
| XM_005272162.1:c.1011G>A | XP_005272219.1:p.Trp337Ter | |
| XM_006716932.1:c.1857G>A | XP_006716995.1:p.Trp619Ter | |
| XM_011518140.1:c.2061G>A | XP_011516442.1:p.Trp687Ter | |
| XM_011518141.1:c.1995G>A | XP_011516443.1:p.Trp665Ter | |
| XM_011518142.1:c.1899G>A | XP_011516444.1:p.Trp633Ter | |
| XM_011518143.1:c.1893G>A | XP_011516445.1:p.Trp631Ter | |
| XM_011518145.1:c.1752G>A | XP_011516447.1:p.Trp584Ter | |
| XM_011518147.1:c.1080G>A | XP_011516449.1:p.Trp360Ter | |
| XR_929703.1:n.2384G>A | ||
| NM_001353193.1:c.2208G>A | NP_001340122.1:p.Trp736Ter | |
| NM_001353194.1:c.1980G>A | NP_001340123.1:p.Trp660Ter | |
| NM_001353195.1:c.1791G>A | NP_001340124.1:p.Trp597Ter | |
| NM_001353196.1:c.2052G>A | NP_001340125.1:p.Trp684Ter | |
| NM_001353197.1:c.2046G>A | NP_001340126.1:p.Trp682Ter | |
| NM_001353198.1:c.2046G>A | NP_001340127.1:p.Trp682Ter | |
| NM_001353199.1:c.1857G>A | NP_001340128.1:p.Trp619Ter | |
| NM_001353200.1:c.1686G>A | NP_001340129.1:p.Trp562Ter | |
| NR_148391.1:n.2192G>A | ||
| NR_148392.1:n.2410G>A | ||
| NR_148393.1:n.2331G>A | ||
| NR_148394.1:n.2085G>A | ||
| NR_148395.1:n.2483G>A | ||
| NR_148396.1:n.2117G>A | ||
| NR_148397.1:n.2242G>A | ||
| NR_148398.1:n.2197G>A | ||
| NR_148399.1:n.2723G>A | ||
| NR_148400.1:n.2322G>A | ||
| XM_005272162.3:c.1011G>A | XP_005272219.1:p.Trp337Ter | |
| XM_006716932.2:c.1857G>A | XP_006716995.1:p.Trp619Ter | |
| XM_011518140.2:c.2061G>A | XP_011516442.1:p.Trp687Ter | |
| XM_011518141.2:c.1995G>A | XP_011516443.1:p.Trp665Ter | |
| XM_011518142.2:c.1899G>A | XP_011516444.1:p.Trp633Ter | |
| XM_011518143.2:c.1893G>A | XP_011516445.1:p.Trp631Ter | |
| XM_011518145.2:c.1752G>A | XP_011516447.1:p.Trp584Ter | |
| XM_017014205.2:c.1011G>A | XP_016869694.1:p.Trp337Ter | |
| XM_024447380.1:c.1011G>A | XP_024303148.1:p.Trp337Ter | |
| XM_024447381.1:c.1317G>A | XP_024303149.1:p.Trp439Ter | |
| XM_024447382.1:c.1011G>A | XP_024303150.1:p.Trp337Ter | |
| XR_001746160.2:n.2312G>A | ||
| XR_001746162.2:n.2517G>A | ||
| XR_001746164.1:n.2234G>A | ||
| XR_001746166.2:n.2529G>A | ||
| NM_001077365.2:c.2142G>A MANE Select | NP_001070833.1:p.Trp714Ter | |
| NM_001077366.2:c.1980G>A | NP_001070834.1:p.Trp660Ter | |
| NM_001136113.2:c.2142G>A | NP_001129585.1:p.Trp714Ter | |
| NM_001136114.2:c.1791G>A | NP_001129586.1:p.Trp597Ter | |
| NM_001353193.2:c.2208G>A | NP_001340122.2:p.Trp736Ter | |
| NM_001353194.2:c.1980G>A | NP_001340123.1:p.Trp660Ter | |
| NM_001353195.2:c.1791G>A | NP_001340124.1:p.Trp597Ter | |
| NM_001353196.2:c.2052G>A | NP_001340125.1:p.Trp684Ter | |
| NM_001353197.2:c.2046G>A | NP_001340126.2:p.Trp682Ter | |
| NM_001353198.2:c.2046G>A | NP_001340127.2:p.Trp682Ter | |
| NM_001353199.2:c.1857G>A | NP_001340128.2:p.Trp619Ter | |
| NM_001353200.2:c.1686G>A | NP_001340129.1:p.Trp562Ter | |
| NM_001374689.1:c.2130G>A | NP_001361618.1:p.Trp710Ter | |
| NM_001374690.1:c.1923G>A | NP_001361619.1:p.Trp641Ter | |
| NM_001374691.1:c.1791G>A | NP_001361620.1:p.Trp597Ter | |
| NM_001374692.1:c.1791G>A | NP_001361621.1:p.Trp597Ter | |
| NM_001374693.1:c.1791G>A | NP_001361622.1:p.Trp597Ter | |
| NM_001374695.1:c.1752G>A | NP_001361624.1:p.Trp584Ter | |
| NM_007171.4:c.2208G>A | NP_009102.4:p.Trp736Ter | |
| NR_148391.2:n.2176G>A | ||
| NR_148392.2:n.2394G>A | ||
| NR_148393.2:n.2315G>A | ||
| NR_148394.2:n.2069G>A | ||
| NR_148395.2:n.2467G>A | ||
| NR_148396.2:n.2101G>A | ||
| NR_148397.2:n.2226G>A | ||
| NR_148398.2:n.2181G>A | ||
| NR_148399.2:n.2707G>A | ||
| NR_148400.2:n.2306G>A |