Linked Data
ClinVar Variation Id:
2952789
ClinVar RCV Id:
RCV003817923
MyVariant Identifiers:
chr9:g.134398433A>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.131523046A>T , CM000671.2:g.131523046A>T | GRCh38 |
| NC_000009.11:g.134398433A>T , CM000671.1:g.134398433A>T | GRCh37 |
| NC_000009.10:g.133388254A>T | NCBI36 |
| NG_008896.1:g.25145A>T | |
| NG_008896.2:g.25145A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341012.13:c.1956A>T | ENSP00000343034.7:p.Pro652= | |
| ENST00000404875.7:n.2658A>T | ||
| ENST00000423007.6:c.2175A>T | ENSP00000404119.2:p.Pro725= | |
| ENST00000677295.2:c.*2462A>T | ENSP00000504346.2:n.*2462A>T | |
| ENST00000678264.2:c.*2301A>T | ENSP00000503157.2:n.*2301A>T | |
| ENST00000682070.1:n.2428A>T | ||
| ENST00000682639.1:c.115A>T | ||
| ENST00000682813.1:n.2515A>T | ||
| ENST00000683231.1:c.115A>T | ||
| ENST00000683392.1:n.4710A>T | ||
| ENST00000683712.1:n.2523A>T | ||
| ENST00000683900.1:n.4018A>T | ||
| ENST00000684062.1:n.2784A>T | ||
| ENST00000684399.1:c.115A>T | ||
| ENST00000684579.1:n.3964A>T | ||
| ENST00000341012.12:c.1956A>T | ENSP00000343034.7:p.Pro652= | |
| ENST00000372220.5:c.987A>T | ENSP00000361294.5:p.Pro329= | |
| ENST00000372228.9:c.2184A>T | ENSP00000361302.3:p.Pro728= | |
| ENST00000402686.8:c.2118A>T MANE Select | ENSP00000385797.4:p.Pro706= | |
| ENST00000676640.1:c.2118A>T | ENSP00000503281.1:p.Pro706= | |
| ENST00000676803.1:c.1179A>T | ENSP00000503093.1:p.Pro393= | |
| ENST00000676835.1:c.*1333A>T | ENSP00000502911.1:n.*1333A>T | |
| ENST00000677029.1:c.1662A>T | ENSP00000502936.1:p.Pro554= | |
| ENST00000677099.1:c.*1828A>T | ENSP00000504553.1:n.*1828A>T | |
| ENST00000677216.1:c.1767A>T | ENSP00000503772.1:p.Pro589= | |
| ENST00000677295.1:c.*1340A>T | ENSP00000504346.1:n.*1340A>T | |
| ENST00000677444.1:c.2063A>T | ||
| ENST00000677586.1:n.1485A>T | ||
| ENST00000677626.1:c.1767A>T | ENSP00000503552.1:p.Pro589= | |
| ENST00000677853.1:c.*1126A>T | ENSP00000503488.1:n.*1126A>T | |
| ENST00000678264.1:c.*1495A>T | ENSP00000503157.1:n.*1495A>T | |
| ENST00000678303.1:c.2028A>T | ENSP00000503696.1:p.Pro676= | |
| ENST00000678366.1:c.*2367A>T | ENSP00000504353.1:n.*2367A>T | |
| ENST00000678546.1:c.*2063A>T | ENSP00000503062.1:n.*2063A>T | |
| ENST00000678548.1:c.*2257A>T | ENSP00000503934.1:n.*2257A>T | |
| ENST00000678626.1:n.1954A>T | ||
| ENST00000678739.1:c.*2284A>T | ENSP00000503806.1:n.*2284A>T | |
| ENST00000678833.1:c.*1870A>T | ENSP00000503893.1:n.*1870A>T | |
| ENST00000679023.1:c.1956A>T | ENSP00000503718.1:p.Pro652= | |
| ENST00000679076.1:c.1737A>T | ||
| ENST00000679111.1:c.*874A>T | ENSP00000504257.1:n.*874A>T | |
| ENST00000679189.1:c.1767A>T | ENSP00000503356.1:p.Pro589= | |
| ENST00000341012.11:c.1956A>T | ENSP00000343034.7:p.Pro652= | |
| ENST00000372220.4:c.981A>T | ENSP00000361294.4:p.Pro327= | |
| ENST00000372228.7:c.2184A>T | ENSP00000361302.3:p.Pro728= | |
| ENST00000402686.7:c.2118A>T | ENSP00000385797.3:p.Pro706= | |
| ENST00000404875.6:c.1767A>T | ENSP00000384531.2:p.Pro589= | |
| ENST00000423007.5:c.2118A>T | ENSP00000404119.1:p.Pro706= | |
| ENST00000485278.5:n.2668A>T | ||
| NM_001077365.1:c.2118A>T | NP_001070833.1:p.Pro706= | |
| NM_001077366.1:c.1956A>T | NP_001070834.1:p.Pro652= | |
| NM_001136113.1:c.2118A>T | NP_001129585.1:p.Pro706= | |
| NM_001136114.1:c.1767A>T | NP_001129586.1:p.Pro589= | |
| NM_007171.3:c.2184A>T | NP_009102.3:p.Pro728= | |
| XM_005272156.1:c.2184A>T | XP_005272213.1:p.Pro728= | |
| XM_005272158.1:c.2022A>T | XP_005272215.1:p.Pro674= | |
| XM_005272159.1:c.1833A>T | XP_005272216.1:p.Pro611= | |
| XM_005272162.1:c.987A>T | XP_005272219.1:p.Pro329= | |
| XM_006716932.1:c.1833A>T | XP_006716995.1:p.Pro611= | |
| XM_011518140.1:c.2037A>T | XP_011516442.1:p.Pro679= | |
| XM_011518141.1:c.1971A>T | XP_011516443.1:p.Pro657= | |
| XM_011518142.1:c.1875A>T | XP_011516444.1:p.Pro625= | |
| XM_011518143.1:c.1869A>T | XP_011516445.1:p.Pro623= | |
| XM_011518145.1:c.1728A>T | XP_011516447.1:p.Pro576= | |
| XM_011518147.1:c.1056A>T | XP_011516449.1:p.Pro352= | |
| XR_929703.1:n.2360A>T | ||
| NM_001353193.1:c.2184A>T | NP_001340122.1:p.Pro728= | |
| NM_001353194.1:c.1956A>T | NP_001340123.1:p.Pro652= | |
| NM_001353195.1:c.1767A>T | NP_001340124.1:p.Pro589= | |
| NM_001353196.1:c.2028A>T | NP_001340125.1:p.Pro676= | |
| NM_001353197.1:c.2022A>T | NP_001340126.1:p.Pro674= | |
| NM_001353198.1:c.2022A>T | NP_001340127.1:p.Pro674= | |
| NM_001353199.1:c.1833A>T | NP_001340128.1:p.Pro611= | |
| NM_001353200.1:c.1662A>T | NP_001340129.1:p.Pro554= | |
| NR_148391.1:n.2168A>T | ||
| NR_148392.1:n.2386A>T | ||
| NR_148393.1:n.2307A>T | ||
| NR_148394.1:n.2061A>T | ||
| NR_148395.1:n.2459A>T | ||
| NR_148396.1:n.2093A>T | ||
| NR_148397.1:n.2218A>T | ||
| NR_148398.1:n.2173A>T | ||
| NR_148399.1:n.2699A>T | ||
| NR_148400.1:n.2298A>T | ||
| XM_005272162.3:c.987A>T | XP_005272219.1:p.Pro329= | |
| XM_006716932.2:c.1833A>T | XP_006716995.1:p.Pro611= | |
| XM_011518140.2:c.2037A>T | XP_011516442.1:p.Pro679= | |
| XM_011518141.2:c.1971A>T | XP_011516443.1:p.Pro657= | |
| XM_011518142.2:c.1875A>T | XP_011516444.1:p.Pro625= | |
| XM_011518143.2:c.1869A>T | XP_011516445.1:p.Pro623= | |
| XM_011518145.2:c.1728A>T | XP_011516447.1:p.Pro576= | |
| XM_017014205.2:c.987A>T | XP_016869694.1:p.Pro329= | |
| XM_024447380.1:c.987A>T | XP_024303148.1:p.Pro329= | |
| XM_024447381.1:c.1293A>T | XP_024303149.1:p.Pro431= | |
| XM_024447382.1:c.987A>T | XP_024303150.1:p.Pro329= | |
| XR_001746160.2:n.2288A>T | ||
| XR_001746162.2:n.2493A>T | ||
| XR_001746164.1:n.2210A>T | ||
| XR_001746166.2:n.2505A>T | ||
| NM_001077365.2:c.2118A>T MANE Select | NP_001070833.1:p.Pro706= | |
| NM_001077366.2:c.1956A>T | NP_001070834.1:p.Pro652= | |
| NM_001136113.2:c.2118A>T | NP_001129585.1:p.Pro706= | |
| NM_001136114.2:c.1767A>T | NP_001129586.1:p.Pro589= | |
| NM_001353193.2:c.2184A>T | NP_001340122.2:p.Pro728= | |
| NM_001353194.2:c.1956A>T | NP_001340123.1:p.Pro652= | |
| NM_001353195.2:c.1767A>T | NP_001340124.1:p.Pro589= | |
| NM_001353196.2:c.2028A>T | NP_001340125.1:p.Pro676= | |
| NM_001353197.2:c.2022A>T | NP_001340126.2:p.Pro674= | |
| NM_001353198.2:c.2022A>T | NP_001340127.2:p.Pro674= | |
| NM_001353199.2:c.1833A>T | NP_001340128.2:p.Pro611= | |
| NM_001353200.2:c.1662A>T | NP_001340129.1:p.Pro554= | |
| NM_001374689.1:c.2106A>T | NP_001361618.1:p.Pro702= | |
| NM_001374690.1:c.1899A>T | NP_001361619.1:p.Pro633= | |
| NM_001374691.1:c.1767A>T | NP_001361620.1:p.Pro589= | |
| NM_001374692.1:c.1767A>T | NP_001361621.1:p.Pro589= | |
| NM_001374693.1:c.1767A>T | NP_001361622.1:p.Pro589= | |
| NM_001374695.1:c.1728A>T | NP_001361624.1:p.Pro576= | |
| NM_007171.4:c.2184A>T | NP_009102.4:p.Pro728= | |
| NR_148391.2:n.2152A>T | ||
| NR_148392.2:n.2370A>T | ||
| NR_148393.2:n.2291A>T | ||
| NR_148394.2:n.2045A>T | ||
| NR_148395.2:n.2443A>T | ||
| NR_148396.2:n.2077A>T | ||
| NR_148397.2:n.2202A>T | ||
| NR_148398.2:n.2157A>T | ||
| NR_148399.2:n.2683A>T | ||
| NR_148400.2:n.2282A>T |