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:
rs1469534474
gnomAD v2:
9-134398353-G-C
gnomAD v3:
9-131522966-G-C
gnomAD v4:
9-131522966-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.131522966G>C , CM000671.2:g.131522966G>C | GRCh38 |
| NC_000009.11:g.134398353G>C , CM000671.1:g.134398353G>C | GRCh37 |
| NC_000009.10:g.133388174G>C | NCBI36 |
| NG_008896.1:g.25065G>C | |
| NG_008896.2:g.25065G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000341012.13:c.1876G>C | ENSP00000343034.7:p.Val626Leu | |
| ENST00000404875.7:n.2578G>C | ||
| ENST00000423007.6:c.2095G>C | ENSP00000404119.2:p.Val699Leu | |
| ENST00000677295.2:c.*2382G>C | ENSP00000504346.2:n.*2382G>C | |
| ENST00000678264.2:c.*2221G>C | ENSP00000503157.2:n.*2221G>C | |
| ENST00000682070.1:n.2348G>C | ||
| ENST00000682639.1:c.35G>C | ||
| ENST00000682813.1:n.2435G>C | ||
| ENST00000683231.1:c.35G>C | ||
| ENST00000683392.1:n.4630G>C | ||
| ENST00000683712.1:n.2443G>C | ||
| ENST00000683900.1:n.3938G>C | ||
| ENST00000684062.1:n.2704G>C | ||
| ENST00000684399.1:c.35G>C | ||
| ENST00000684579.1:n.3884G>C | ||
| ENST00000341012.12:c.1876G>C | ENSP00000343034.7:p.Val626Leu | |
| ENST00000372220.5:c.907G>C | ENSP00000361294.5:p.Val303Leu | |
| ENST00000372228.9:c.2104G>C | ENSP00000361302.3:p.Val702Leu | |
| ENST00000402686.8:c.2038G>C MANE Select | ENSP00000385797.4:p.Val680Leu | |
| ENST00000676640.1:c.2038G>C | ENSP00000503281.1:p.Val680Leu | |
| ENST00000676803.1:c.1099G>C | ENSP00000503093.1:p.Val367Leu | |
| ENST00000676835.1:c.*1253G>C | ENSP00000502911.1:n.*1253G>C | |
| ENST00000677029.1:c.1582G>C | ENSP00000502936.1:p.Val528Leu | |
| ENST00000677099.1:c.*1748G>C | ENSP00000504553.1:n.*1748G>C | |
| ENST00000677216.1:c.1687G>C | ENSP00000503772.1:p.Val563Leu | |
| ENST00000677221.1:n.1063G>C | ||
| ENST00000677295.1:c.*1260G>C | ENSP00000504346.1:n.*1260G>C | |
| ENST00000677444.1:c.1983G>C | ||
| ENST00000677586.1:n.1405G>C | ||
| ENST00000677626.1:c.1687G>C | ENSP00000503552.1:p.Val563Leu | |
| ENST00000677853.1:c.*1046G>C | ENSP00000503488.1:n.*1046G>C | |
| ENST00000678264.1:c.*1415G>C | ENSP00000503157.1:n.*1415G>C | |
| ENST00000678303.1:c.1948G>C | ENSP00000503696.1:p.Val650Leu | |
| ENST00000678366.1:c.*2287G>C | ENSP00000504353.1:n.*2287G>C | |
| ENST00000678546.1:c.*1983G>C | ENSP00000503062.1:n.*1983G>C | |
| ENST00000678548.1:c.*2177G>C | ENSP00000503934.1:n.*2177G>C | |
| ENST00000678626.1:n.1874G>C | ||
| ENST00000678739.1:c.*2204G>C | ENSP00000503806.1:n.*2204G>C | |
| ENST00000678833.1:c.*1790G>C | ENSP00000503893.1:n.*1790G>C | |
| ENST00000679023.1:c.1876G>C | ENSP00000503718.1:p.Val626Leu | |
| ENST00000679076.1:c.1657G>C | ||
| ENST00000679111.1:c.*794G>C | ENSP00000504257.1:n.*794G>C | |
| ENST00000679189.1:c.1687G>C | ENSP00000503356.1:p.Val563Leu | |
| ENST00000341012.11:c.1876G>C | ENSP00000343034.7:p.Val626Leu | |
| ENST00000372220.4:c.901G>C | ENSP00000361294.4:p.Val301Leu | |
| ENST00000372228.7:c.2104G>C | ENSP00000361302.3:p.Val702Leu | |
| ENST00000402686.7:c.2038G>C | ENSP00000385797.3:p.Val680Leu | |
| ENST00000404875.6:c.1687G>C | ENSP00000384531.2:p.Val563Leu | |
| ENST00000423007.5:c.2038G>C | ENSP00000404119.1:p.Val680Leu | |
| ENST00000485278.5:n.2588G>C | ||
| NM_001077365.1:c.2038G>C | NP_001070833.1:p.Val680Leu | |
| NM_001077366.1:c.1876G>C | NP_001070834.1:p.Val626Leu | |
| NM_001136113.1:c.2038G>C | NP_001129585.1:p.Val680Leu | |
| NM_001136114.1:c.1687G>C | NP_001129586.1:p.Val563Leu | |
| NM_007171.3:c.2104G>C | NP_009102.3:p.Val702Leu | |
| XM_005272156.1:c.2104G>C | XP_005272213.1:p.Val702Leu | |
| XM_005272158.1:c.1942G>C | XP_005272215.1:p.Val648Leu | |
| XM_005272159.1:c.1753G>C | XP_005272216.1:p.Val585Leu | |
| XM_005272162.1:c.907G>C | XP_005272219.1:p.Val303Leu | |
| XM_006716932.1:c.1753G>C | XP_006716995.1:p.Val585Leu | |
| XM_011518140.1:c.1957G>C | XP_011516442.1:p.Val653Leu | |
| XM_011518141.1:c.1891G>C | XP_011516443.1:p.Val631Leu | |
| XM_011518142.1:c.1795G>C | XP_011516444.1:p.Val599Leu | |
| XM_011518143.1:c.1789G>C | XP_011516445.1:p.Val597Leu | |
| XM_011518145.1:c.1648G>C | XP_011516447.1:p.Val550Leu | |
| XM_011518147.1:c.976G>C | XP_011516449.1:p.Val326Leu | |
| XR_929703.1:n.2280G>C | ||
| NM_001353193.1:c.2104G>C | NP_001340122.1:p.Val702Leu | |
| NM_001353194.1:c.1876G>C | NP_001340123.1:p.Val626Leu | |
| NM_001353195.1:c.1687G>C | NP_001340124.1:p.Val563Leu | |
| NM_001353196.1:c.1948G>C | NP_001340125.1:p.Val650Leu | |
| NM_001353197.1:c.1942G>C | NP_001340126.1:p.Val648Leu | |
| NM_001353198.1:c.1942G>C | NP_001340127.1:p.Val648Leu | |
| NM_001353199.1:c.1753G>C | NP_001340128.1:p.Val585Leu | |
| NM_001353200.1:c.1582G>C | NP_001340129.1:p.Val528Leu | |
| NR_148391.1:n.2088G>C | ||
| NR_148392.1:n.2306G>C | ||
| NR_148393.1:n.2227G>C | ||
| NR_148394.1:n.1981G>C | ||
| NR_148395.1:n.2379G>C | ||
| NR_148396.1:n.2013G>C | ||
| NR_148397.1:n.2138G>C | ||
| NR_148398.1:n.2093G>C | ||
| NR_148399.1:n.2619G>C | ||
| NR_148400.1:n.2218G>C | ||
| XM_005272162.3:c.907G>C | XP_005272219.1:p.Val303Leu | |
| XM_006716932.2:c.1753G>C | XP_006716995.1:p.Val585Leu | |
| XM_011518140.2:c.1957G>C | XP_011516442.1:p.Val653Leu | |
| XM_011518141.2:c.1891G>C | XP_011516443.1:p.Val631Leu | |
| XM_011518142.2:c.1795G>C | XP_011516444.1:p.Val599Leu | |
| XM_011518143.2:c.1789G>C | XP_011516445.1:p.Val597Leu | |
| XM_011518145.2:c.1648G>C | XP_011516447.1:p.Val550Leu | |
| XM_017014205.2:c.907G>C | XP_016869694.1:p.Val303Leu | |
| XM_024447380.1:c.907G>C | XP_024303148.1:p.Val303Leu | |
| XM_024447381.1:c.1213G>C | XP_024303149.1:p.Val405Leu | |
| XM_024447382.1:c.907G>C | XP_024303150.1:p.Val303Leu | |
| XR_001746160.2:n.2208G>C | ||
| XR_001746162.2:n.2413G>C | ||
| XR_001746164.1:n.2130G>C | ||
| XR_001746166.2:n.2425G>C | ||
| NM_001077365.2:c.2038G>C MANE Select | NP_001070833.1:p.Val680Leu | |
| NM_001077366.2:c.1876G>C | NP_001070834.1:p.Val626Leu | |
| NM_001136113.2:c.2038G>C | NP_001129585.1:p.Val680Leu | |
| NM_001136114.2:c.1687G>C | NP_001129586.1:p.Val563Leu | |
| NM_001353193.2:c.2104G>C | NP_001340122.2:p.Val702Leu | |
| NM_001353194.2:c.1876G>C | NP_001340123.1:p.Val626Leu | |
| NM_001353195.2:c.1687G>C | NP_001340124.1:p.Val563Leu | |
| NM_001353196.2:c.1948G>C | NP_001340125.1:p.Val650Leu | |
| NM_001353197.2:c.1942G>C | NP_001340126.2:p.Val648Leu | |
| NM_001353198.2:c.1942G>C | NP_001340127.2:p.Val648Leu | |
| NM_001353199.2:c.1753G>C | NP_001340128.2:p.Val585Leu | |
| NM_001353200.2:c.1582G>C | NP_001340129.1:p.Val528Leu | |
| NM_001374689.1:c.2026G>C | NP_001361618.1:p.Val676Leu | |
| NM_001374690.1:c.1819G>C | NP_001361619.1:p.Val607Leu | |
| NM_001374691.1:c.1687G>C | NP_001361620.1:p.Val563Leu | |
| NM_001374692.1:c.1687G>C | NP_001361621.1:p.Val563Leu | |
| NM_001374693.1:c.1687G>C | NP_001361622.1:p.Val563Leu | |
| NM_001374695.1:c.1648G>C | NP_001361624.1:p.Val550Leu | |
| NM_007171.4:c.2104G>C | NP_009102.4:p.Val702Leu | |
| NR_148391.2:n.2072G>C | ||
| NR_148392.2:n.2290G>C | ||
| NR_148393.2:n.2211G>C | ||
| NR_148394.2:n.1965G>C | ||
| NR_148395.2:n.2363G>C | ||
| NR_148396.2:n.1997G>C | ||
| NR_148397.2:n.2122G>C | ||
| NR_148398.2:n.2077G>C | ||
| NR_148399.2:n.2603G>C | ||
| NR_148400.2:n.2202G>C |