Linked Data
ClinVar Variation Id:
1539548
ClinVar RCV Id:
RCV002154636
dbSNP Id:
rs1335756801
gnomAD v2:
9-134398379-C-T
gnomAD v4:
9-131522992-C-T
COSMIC:
COSM1106164
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.131522992C>T , CM000671.2:g.131522992C>T | GRCh38 |
| NC_000009.11:g.134398379C>T , CM000671.1:g.134398379C>T | GRCh37 |
| NC_000009.10:g.133388200C>T | NCBI36 |
| NG_008896.1:g.25091C>T | |
| NG_008896.2:g.25091C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341012.13:c.1902C>T | ENSP00000343034.7:p.Cys634= | |
| ENST00000404875.7:n.2604C>T | ||
| ENST00000423007.6:c.2121C>T | ENSP00000404119.2:p.Cys707= | |
| ENST00000677295.2:c.*2408C>T | ENSP00000504346.2:n.*2408C>T | |
| ENST00000678264.2:c.*2247C>T | ENSP00000503157.2:n.*2247C>T | |
| ENST00000682070.1:n.2374C>T | ||
| ENST00000682639.1:c.61C>T | ||
| ENST00000682813.1:n.2461C>T | ||
| ENST00000683231.1:c.61C>T | ||
| ENST00000683392.1:n.4656C>T | ||
| ENST00000683712.1:n.2469C>T | ||
| ENST00000683900.1:n.3964C>T | ||
| ENST00000684062.1:n.2730C>T | ||
| ENST00000684399.1:c.61C>T | ||
| ENST00000684579.1:n.3910C>T | ||
| ENST00000341012.12:c.1902C>T | ENSP00000343034.7:p.Cys634= | |
| ENST00000372220.5:c.933C>T | ENSP00000361294.5:p.Cys311= | |
| ENST00000372228.9:c.2130C>T | ENSP00000361302.3:p.Cys710= | |
| ENST00000402686.8:c.2064C>T MANE Select | ENSP00000385797.4:p.Cys688= | |
| ENST00000676640.1:c.2064C>T | ENSP00000503281.1:p.Cys688= | |
| ENST00000676803.1:c.1125C>T | ENSP00000503093.1:p.Cys375= | |
| ENST00000676835.1:c.*1279C>T | ENSP00000502911.1:n.*1279C>T | |
| ENST00000677029.1:c.1608C>T | ENSP00000502936.1:p.Cys536= | |
| ENST00000677099.1:c.*1774C>T | ENSP00000504553.1:n.*1774C>T | |
| ENST00000677216.1:c.1713C>T | ENSP00000503772.1:p.Cys571= | |
| ENST00000677221.1:n.1089C>T | ||
| ENST00000677295.1:c.*1286C>T | ENSP00000504346.1:n.*1286C>T | |
| ENST00000677444.1:c.2009C>T | ||
| ENST00000677586.1:n.1431C>T | ||
| ENST00000677626.1:c.1713C>T | ENSP00000503552.1:p.Cys571= | |
| ENST00000677853.1:c.*1072C>T | ENSP00000503488.1:n.*1072C>T | |
| ENST00000678264.1:c.*1441C>T | ENSP00000503157.1:n.*1441C>T | |
| ENST00000678303.1:c.1974C>T | ENSP00000503696.1:p.Cys658= | |
| ENST00000678366.1:c.*2313C>T | ENSP00000504353.1:n.*2313C>T | |
| ENST00000678546.1:c.*2009C>T | ENSP00000503062.1:n.*2009C>T | |
| ENST00000678548.1:c.*2203C>T | ENSP00000503934.1:n.*2203C>T | |
| ENST00000678626.1:n.1900C>T | ||
| ENST00000678739.1:c.*2230C>T | ENSP00000503806.1:n.*2230C>T | |
| ENST00000678833.1:c.*1816C>T | ENSP00000503893.1:n.*1816C>T | |
| ENST00000679023.1:c.1902C>T | ENSP00000503718.1:p.Cys634= | |
| ENST00000679076.1:c.1683C>T | ||
| ENST00000679111.1:c.*820C>T | ENSP00000504257.1:n.*820C>T | |
| ENST00000679189.1:c.1713C>T | ENSP00000503356.1:p.Cys571= | |
| ENST00000341012.11:c.1902C>T | ENSP00000343034.7:p.Cys634= | |
| ENST00000372220.4:c.927C>T | ENSP00000361294.4:p.Cys309= | |
| ENST00000372228.7:c.2130C>T | ENSP00000361302.3:p.Cys710= | |
| ENST00000402686.7:c.2064C>T | ENSP00000385797.3:p.Cys688= | |
| ENST00000404875.6:c.1713C>T | ENSP00000384531.2:p.Cys571= | |
| ENST00000423007.5:c.2064C>T | ENSP00000404119.1:p.Cys688= | |
| ENST00000485278.5:n.2614C>T | ||
| NM_001077365.1:c.2064C>T | NP_001070833.1:p.Cys688= | |
| NM_001077366.1:c.1902C>T | NP_001070834.1:p.Cys634= | |
| NM_001136113.1:c.2064C>T | NP_001129585.1:p.Cys688= | |
| NM_001136114.1:c.1713C>T | NP_001129586.1:p.Cys571= | |
| NM_007171.3:c.2130C>T | NP_009102.3:p.Cys710= | |
| XM_005272156.1:c.2130C>T | XP_005272213.1:p.Cys710= | |
| XM_005272158.1:c.1968C>T | XP_005272215.1:p.Cys656= | |
| XM_005272159.1:c.1779C>T | XP_005272216.1:p.Cys593= | |
| XM_005272162.1:c.933C>T | XP_005272219.1:p.Cys311= | |
| XM_006716932.1:c.1779C>T | XP_006716995.1:p.Cys593= | |
| XM_011518140.1:c.1983C>T | XP_011516442.1:p.Cys661= | |
| XM_011518141.1:c.1917C>T | XP_011516443.1:p.Cys639= | |
| XM_011518142.1:c.1821C>T | XP_011516444.1:p.Cys607= | |
| XM_011518143.1:c.1815C>T | XP_011516445.1:p.Cys605= | |
| XM_011518145.1:c.1674C>T | XP_011516447.1:p.Cys558= | |
| XM_011518147.1:c.1002C>T | XP_011516449.1:p.Cys334= | |
| XR_929703.1:n.2306C>T | ||
| NM_001353193.1:c.2130C>T | NP_001340122.1:p.Cys710= | |
| NM_001353194.1:c.1902C>T | NP_001340123.1:p.Cys634= | |
| NM_001353195.1:c.1713C>T | NP_001340124.1:p.Cys571= | |
| NM_001353196.1:c.1974C>T | NP_001340125.1:p.Cys658= | |
| NM_001353197.1:c.1968C>T | NP_001340126.1:p.Cys656= | |
| NM_001353198.1:c.1968C>T | NP_001340127.1:p.Cys656= | |
| NM_001353199.1:c.1779C>T | NP_001340128.1:p.Cys593= | |
| NM_001353200.1:c.1608C>T | NP_001340129.1:p.Cys536= | |
| NR_148391.1:n.2114C>T | ||
| NR_148392.1:n.2332C>T | ||
| NR_148393.1:n.2253C>T | ||
| NR_148394.1:n.2007C>T | ||
| NR_148395.1:n.2405C>T | ||
| NR_148396.1:n.2039C>T | ||
| NR_148397.1:n.2164C>T | ||
| NR_148398.1:n.2119C>T | ||
| NR_148399.1:n.2645C>T | ||
| NR_148400.1:n.2244C>T | ||
| XM_005272162.3:c.933C>T | XP_005272219.1:p.Cys311= | |
| XM_006716932.2:c.1779C>T | XP_006716995.1:p.Cys593= | |
| XM_011518140.2:c.1983C>T | XP_011516442.1:p.Cys661= | |
| XM_011518141.2:c.1917C>T | XP_011516443.1:p.Cys639= | |
| XM_011518142.2:c.1821C>T | XP_011516444.1:p.Cys607= | |
| XM_011518143.2:c.1815C>T | XP_011516445.1:p.Cys605= | |
| XM_011518145.2:c.1674C>T | XP_011516447.1:p.Cys558= | |
| XM_017014205.2:c.933C>T | XP_016869694.1:p.Cys311= | |
| XM_024447380.1:c.933C>T | XP_024303148.1:p.Cys311= | |
| XM_024447381.1:c.1239C>T | XP_024303149.1:p.Cys413= | |
| XM_024447382.1:c.933C>T | XP_024303150.1:p.Cys311= | |
| XR_001746160.2:n.2234C>T | ||
| XR_001746162.2:n.2439C>T | ||
| XR_001746164.1:n.2156C>T | ||
| XR_001746166.2:n.2451C>T | ||
| NM_001077365.2:c.2064C>T MANE Select | NP_001070833.1:p.Cys688= | |
| NM_001077366.2:c.1902C>T | NP_001070834.1:p.Cys634= | |
| NM_001136113.2:c.2064C>T | NP_001129585.1:p.Cys688= | |
| NM_001136114.2:c.1713C>T | NP_001129586.1:p.Cys571= | |
| NM_001353193.2:c.2130C>T | NP_001340122.2:p.Cys710= | |
| NM_001353194.2:c.1902C>T | NP_001340123.1:p.Cys634= | |
| NM_001353195.2:c.1713C>T | NP_001340124.1:p.Cys571= | |
| NM_001353196.2:c.1974C>T | NP_001340125.1:p.Cys658= | |
| NM_001353197.2:c.1968C>T | NP_001340126.2:p.Cys656= | |
| NM_001353198.2:c.1968C>T | NP_001340127.2:p.Cys656= | |
| NM_001353199.2:c.1779C>T | NP_001340128.2:p.Cys593= | |
| NM_001353200.2:c.1608C>T | NP_001340129.1:p.Cys536= | |
| NM_001374689.1:c.2052C>T | NP_001361618.1:p.Cys684= | |
| NM_001374690.1:c.1845C>T | NP_001361619.1:p.Cys615= | |
| NM_001374691.1:c.1713C>T | NP_001361620.1:p.Cys571= | |
| NM_001374692.1:c.1713C>T | NP_001361621.1:p.Cys571= | |
| NM_001374693.1:c.1713C>T | NP_001361622.1:p.Cys571= | |
| NM_001374695.1:c.1674C>T | NP_001361624.1:p.Cys558= | |
| NM_007171.4:c.2130C>T | NP_009102.4:p.Cys710= | |
| NR_148391.2:n.2098C>T | ||
| NR_148392.2:n.2316C>T | ||
| NR_148393.2:n.2237C>T | ||
| NR_148394.2:n.1991C>T | ||
| NR_148395.2:n.2389C>T | ||
| NR_148396.2:n.2023C>T | ||
| NR_148397.2:n.2148C>T | ||
| NR_148398.2:n.2103C>T | ||
| NR_148399.2:n.2629C>T | ||
| NR_148400.2:n.2228C>T |