Linked Data
ClinVar Variation Id:
260145
dbSNP Id:
rs140553130
ExAC:
9:134397594 C / T
gnomAD v2:
9-134397594-C-T
gnomAD v3:
9-131522207-C-T
gnomAD v4:
9-131522207-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.131522207C>T , CM000671.2:g.131522207C>T | GRCh38 |
| NC_000009.11:g.134397594C>T , CM000671.1:g.134397594C>T | GRCh37 |
| NC_000009.10:g.133387415C>T | NCBI36 |
| NG_008896.1:g.24306C>T | |
| NG_008896.2:g.24306C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341012.13:c.1824C>T | ENSP00000343034.7:p.Ile608= | |
| ENST00000404875.7:n.2526C>T | ||
| ENST00000423007.6:c.2043C>T | ENSP00000404119.2:p.Ile681= | |
| ENST00000677295.2:c.*2330C>T | ENSP00000504346.2:n.*2330C>T | |
| ENST00000678264.2:c.*2169C>T | ENSP00000503157.2:n.*2169C>T | |
| ENST00000682070.1:n.2296C>T | ||
| ENST00000682813.1:n.2390C>T | ||
| ENST00000683392.1:n.4578C>T | ||
| ENST00000683712.1:n.2391C>T | ||
| ENST00000683900.1:n.3886C>T | ||
| ENST00000684062.1:n.2652C>T | ||
| ENST00000684579.1:n.3832C>T | ||
| ENST00000341012.12:c.1824C>T | ENSP00000343034.7:p.Ile608= | |
| ENST00000372220.5:c.855C>T | ENSP00000361294.5:p.Ile285= | |
| ENST00000372228.9:c.2052C>T | ENSP00000361302.3:p.Ile684= | |
| ENST00000402686.8:c.1986C>T MANE Select | ENSP00000385797.4:p.Ile662= | |
| ENST00000676640.1:c.1986C>T | ENSP00000503281.1:p.Ile662= | |
| ENST00000676803.1:c.1047C>T | ENSP00000503093.1:p.Ile349= | |
| ENST00000676835.1:c.*1201C>T | ENSP00000502911.1:n.*1201C>T | |
| ENST00000677029.1:c.1530C>T | ENSP00000502936.1:p.Ile510= | |
| ENST00000677099.1:c.*1696C>T | ENSP00000504553.1:n.*1696C>T | |
| ENST00000677216.1:c.1635C>T | ENSP00000503772.1:p.Ile545= | |
| ENST00000677221.1:n.1011C>T | ||
| ENST00000677295.1:c.*1208C>T | ENSP00000504346.1:n.*1208C>T | |
| ENST00000677444.1:c.1931C>T | ||
| ENST00000677586.1:n.1353C>T | ||
| ENST00000677626.1:c.1635C>T | ENSP00000503552.1:p.Ile545= | |
| ENST00000677853.1:c.*994C>T | ENSP00000503488.1:n.*994C>T | |
| ENST00000678264.1:c.*1363C>T | ENSP00000503157.1:n.*1363C>T | |
| ENST00000678303.1:c.1896C>T | ENSP00000503696.1:p.Ile632= | |
| ENST00000678366.1:c.*2235C>T | ENSP00000504353.1:n.*2235C>T | |
| ENST00000678546.1:c.*1931C>T | ENSP00000503062.1:n.*1931C>T | |
| ENST00000678548.1:c.*2125C>T | ENSP00000503934.1:n.*2125C>T | |
| ENST00000678626.1:n.1822C>T | ||
| ENST00000678739.1:c.*2152C>T | ENSP00000503806.1:n.*2152C>T | |
| ENST00000678833.1:c.*1738C>T | ENSP00000503893.1:n.*1738C>T | |
| ENST00000679023.1:c.1824C>T | ENSP00000503718.1:p.Ile608= | |
| ENST00000679076.1:c.1605C>T | ||
| ENST00000679111.1:c.*742C>T | ENSP00000504257.1:n.*742C>T | |
| ENST00000679189.1:c.1635C>T | ENSP00000503356.1:p.Ile545= | |
| ENST00000341012.11:c.1824C>T | ENSP00000343034.7:p.Ile608= | |
| ENST00000372220.4:c.849C>T | ENSP00000361294.4:p.Ile283= | |
| ENST00000372228.7:c.2052C>T | ENSP00000361302.3:p.Ile684= | |
| ENST00000402686.7:c.1986C>T | ENSP00000385797.3:p.Ile662= | |
| ENST00000404875.6:c.1635C>T | ENSP00000384531.2:p.Ile545= | |
| ENST00000423007.5:c.1986C>T | ENSP00000404119.1:p.Ile662= | |
| ENST00000485278.5:n.2536C>T | ||
| ENST00000494883.1:n.529C>T | ||
| NM_001077365.1:c.1986C>T | NP_001070833.1:p.Ile662= | |
| NM_001077366.1:c.1824C>T | NP_001070834.1:p.Ile608= | |
| NM_001136113.1:c.1986C>T | NP_001129585.1:p.Ile662= | |
| NM_001136114.1:c.1635C>T | NP_001129586.1:p.Ile545= | |
| NM_007171.3:c.2052C>T | NP_009102.3:p.Ile684= | |
| XM_005272156.1:c.2052C>T | XP_005272213.1:p.Ile684= | |
| XM_005272158.1:c.1890C>T | XP_005272215.1:p.Ile630= | |
| XM_005272159.1:c.1701C>T | XP_005272216.1:p.Ile567= | |
| XM_005272162.1:c.855C>T | XP_005272219.1:p.Ile285= | |
| XM_006716932.1:c.1701C>T | XP_006716995.1:p.Ile567= | |
| XM_011518140.1:c.1905C>T | XP_011516442.1:p.Ile635= | |
| XM_011518141.1:c.1839C>T | XP_011516443.1:p.Ile613= | |
| XM_011518142.1:c.1743C>T | XP_011516444.1:p.Ile581= | |
| XM_011518143.1:c.1737C>T | XP_011516445.1:p.Ile579= | |
| XM_011518145.1:c.1596C>T | XP_011516447.1:p.Ile532= | |
| XM_011518147.1:c.924C>T | XP_011516449.1:p.Ile308= | |
| XR_929703.1:n.2228C>T | ||
| NM_001353193.1:c.2052C>T | NP_001340122.1:p.Ile684= | |
| NM_001353194.1:c.1824C>T | NP_001340123.1:p.Ile608= | |
| NM_001353195.1:c.1635C>T | NP_001340124.1:p.Ile545= | |
| NM_001353196.1:c.1896C>T | NP_001340125.1:p.Ile632= | |
| NM_001353197.1:c.1890C>T | NP_001340126.1:p.Ile630= | |
| NM_001353198.1:c.1890C>T | NP_001340127.1:p.Ile630= | |
| NM_001353199.1:c.1701C>T | NP_001340128.1:p.Ile567= | |
| NM_001353200.1:c.1530C>T | NP_001340129.1:p.Ile510= | |
| NR_148391.1:n.2036C>T | ||
| NR_148392.1:n.2254C>T | ||
| NR_148393.1:n.2175C>T | ||
| NR_148394.1:n.1929C>T | ||
| NR_148395.1:n.2327C>T | ||
| NR_148396.1:n.1961C>T | ||
| NR_148397.1:n.2086C>T | ||
| NR_148398.1:n.2041C>T | ||
| NR_148399.1:n.2567C>T | ||
| NR_148400.1:n.2166C>T | ||
| XM_005272162.3:c.855C>T | XP_005272219.1:p.Ile285= | |
| XM_006716932.2:c.1701C>T | XP_006716995.1:p.Ile567= | |
| XM_011518140.2:c.1905C>T | XP_011516442.1:p.Ile635= | |
| XM_011518141.2:c.1839C>T | XP_011516443.1:p.Ile613= | |
| XM_011518142.2:c.1743C>T | XP_011516444.1:p.Ile581= | |
| XM_011518143.2:c.1737C>T | XP_011516445.1:p.Ile579= | |
| XM_011518145.2:c.1596C>T | XP_011516447.1:p.Ile532= | |
| XM_017014205.2:c.855C>T | XP_016869694.1:p.Ile285= | |
| XM_024447380.1:c.855C>T | XP_024303148.1:p.Ile285= | |
| XM_024447381.1:c.1161C>T | XP_024303149.1:p.Ile387= | |
| XM_024447382.1:c.855C>T | XP_024303150.1:p.Ile285= | |
| XR_001746160.2:n.2156C>T | ||
| XR_001746162.2:n.2361C>T | ||
| XR_001746164.1:n.2078C>T | ||
| XR_001746166.2:n.2373C>T | ||
| NM_001077365.2:c.1986C>T MANE Select | NP_001070833.1:p.Ile662= | |
| NM_001077366.2:c.1824C>T | NP_001070834.1:p.Ile608= | |
| NM_001136113.2:c.1986C>T | NP_001129585.1:p.Ile662= | |
| NM_001136114.2:c.1635C>T | NP_001129586.1:p.Ile545= | |
| NM_001353193.2:c.2052C>T | NP_001340122.2:p.Ile684= | |
| NM_001353194.2:c.1824C>T | NP_001340123.1:p.Ile608= | |
| NM_001353195.2:c.1635C>T | NP_001340124.1:p.Ile545= | |
| NM_001353196.2:c.1896C>T | NP_001340125.1:p.Ile632= | |
| NM_001353197.2:c.1890C>T | NP_001340126.2:p.Ile630= | |
| NM_001353198.2:c.1890C>T | NP_001340127.2:p.Ile630= | |
| NM_001353199.2:c.1701C>T | NP_001340128.2:p.Ile567= | |
| NM_001353200.2:c.1530C>T | NP_001340129.1:p.Ile510= | |
| NM_001374689.1:c.1974C>T | NP_001361618.1:p.Ile658= | |
| NM_001374690.1:c.1767C>T | NP_001361619.1:p.Ile589= | |
| NM_001374691.1:c.1635C>T | NP_001361620.1:p.Ile545= | |
| NM_001374692.1:c.1635C>T | NP_001361621.1:p.Ile545= | |
| NM_001374693.1:c.1635C>T | NP_001361622.1:p.Ile545= | |
| NM_001374695.1:c.1596C>T | NP_001361624.1:p.Ile532= | |
| NM_007171.4:c.2052C>T | NP_009102.4:p.Ile684= | |
| NR_148391.2:n.2020C>T | ||
| NR_148392.2:n.2238C>T | ||
| NR_148393.2:n.2159C>T | ||
| NR_148394.2:n.1913C>T | ||
| NR_148395.2:n.2311C>T | ||
| NR_148396.2:n.1945C>T | ||
| NR_148397.2:n.2070C>T | ||
| NR_148398.2:n.2025C>T | ||
| NR_148399.2:n.2551C>T | ||
| NR_148400.2:n.2150C>T |