Linked Data
ClinVar Variation Id:
288874
ClinVar RCV Id:
RCV000317771
dbSNP Id:
rs750972624
gnomAD v2:
9-134397541-C-T
gnomAD v4:
9-131522154-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.131522154C>T , CM000671.2:g.131522154C>T | GRCh38 |
| NC_000009.11:g.134397541C>T , CM000671.1:g.134397541C>T | GRCh37 |
| NC_000009.10:g.133387362C>T | NCBI36 |
| NG_008896.1:g.24253C>T | |
| NG_008896.2:g.24253C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341012.13:c.1771C>T | ENSP00000343034.7:p.Leu591= | |
| ENST00000404875.7:n.2473C>T | ||
| ENST00000423007.6:c.1990C>T | ENSP00000404119.2:p.Leu664= | |
| ENST00000677295.2:c.*2277C>T | ENSP00000504346.2:n.*2277C>T | |
| ENST00000678264.2:c.*2116C>T | ENSP00000503157.2:n.*2116C>T | |
| ENST00000682070.1:n.2291-48C>T | ||
| ENST00000682813.1:n.2337C>T | ||
| ENST00000683392.1:n.4573-48C>T | ||
| ENST00000683712.1:n.2338C>T | ||
| ENST00000683900.1:n.3833C>T | ||
| ENST00000684062.1:n.2599C>T | ||
| ENST00000684579.1:n.3779C>T | ||
| ENST00000684679.1:n.1160C>T | ||
| ENST00000341012.12:c.1771C>T | ENSP00000343034.7:p.Leu591= | |
| ENST00000372220.5:c.802C>T | ENSP00000361294.5:p.Leu268= | |
| ENST00000372228.9:c.1999C>T | ENSP00000361302.3:p.Leu667= | |
| ENST00000402686.8:c.1933C>T MANE Select | ENSP00000385797.4:p.Leu645= | |
| ENST00000676640.1:c.1933C>T | ENSP00000503281.1:p.Leu645= | |
| ENST00000676803.1:c.994C>T | ENSP00000503093.1:p.Leu332= | |
| ENST00000676835.1:c.*1148C>T | ENSP00000502911.1:n.*1148C>T | |
| ENST00000677029.1:c.1477C>T | ENSP00000502936.1:p.Leu493= | |
| ENST00000677099.1:c.*1643C>T | ENSP00000504553.1:n.*1643C>T | |
| ENST00000677216.1:c.1582C>T | ENSP00000503772.1:p.Leu528= | |
| ENST00000677221.1:n.958C>T | ||
| ENST00000677295.1:c.*1203-48C>T | ENSP00000504346.1:n.*1203-48C>T | |
| ENST00000677444.1:c.1878C>T | ||
| ENST00000677586.1:n.1300C>T | ||
| ENST00000677626.1:c.1582C>T | ENSP00000503552.1:p.Leu528= | |
| ENST00000677853.1:c.*941C>T | ENSP00000503488.1:n.*941C>T | |
| ENST00000678202.1:n.1092C>T | ||
| ENST00000678264.1:c.*1310C>T | ENSP00000503157.1:n.*1310C>T | |
| ENST00000678303.1:c.1843C>T | ENSP00000503696.1:p.Leu615= | |
| ENST00000678366.1:c.*2182C>T | ENSP00000504353.1:n.*2182C>T | |
| ENST00000678546.1:c.*1878C>T | ENSP00000503062.1:n.*1878C>T | |
| ENST00000678548.1:c.*2072C>T | ENSP00000503934.1:n.*2072C>T | |
| ENST00000678626.1:n.1769C>T | ||
| ENST00000678739.1:c.*2147-48C>T | ENSP00000503806.1:n.*2147-48C>T | |
| ENST00000678833.1:c.*1685C>T | ENSP00000503893.1:n.*1685C>T | |
| ENST00000679023.1:c.1771C>T | ENSP00000503718.1:p.Leu591= | |
| ENST00000679076.1:c.1552C>T | ||
| ENST00000679111.1:c.*689C>T | ENSP00000504257.1:n.*689C>T | |
| ENST00000679189.1:c.1582C>T | ENSP00000503356.1:p.Leu528= | |
| ENST00000341012.11:c.1771C>T | ENSP00000343034.7:p.Leu591= | |
| ENST00000372220.4:c.796C>T | ENSP00000361294.4:p.Leu266= | |
| ENST00000372228.7:c.1999C>T | ENSP00000361302.3:p.Leu667= | |
| ENST00000402686.7:c.1933C>T | ENSP00000385797.3:p.Leu645= | |
| ENST00000404875.6:c.1582C>T | ENSP00000384531.2:p.Leu528= | |
| ENST00000423007.5:c.1933C>T | ENSP00000404119.1:p.Leu645= | |
| ENST00000485278.5:n.2483C>T | ||
| ENST00000494883.1:n.476C>T | ||
| NM_001077365.1:c.1933C>T | NP_001070833.1:p.Leu645= | |
| NM_001077366.1:c.1771C>T | NP_001070834.1:p.Leu591= | |
| NM_001136113.1:c.1933C>T | NP_001129585.1:p.Leu645= | |
| NM_001136114.1:c.1582C>T | NP_001129586.1:p.Leu528= | |
| NM_007171.3:c.1999C>T | NP_009102.3:p.Leu667= | |
| XM_005272156.1:c.1999C>T | XP_005272213.1:p.Leu667= | |
| XM_005272158.1:c.1837C>T | XP_005272215.1:p.Leu613= | |
| XM_005272159.1:c.1648C>T | XP_005272216.1:p.Leu550= | |
| XM_005272162.1:c.802C>T | XP_005272219.1:p.Leu268= | |
| XM_006716932.1:c.1648C>T | XP_006716995.1:p.Leu550= | |
| XM_011518140.1:c.1852C>T | XP_011516442.1:p.Leu618= | |
| XM_011518141.1:c.1786C>T | XP_011516443.1:p.Leu596= | |
| XM_011518142.1:c.1690C>T | XP_011516444.1:p.Leu564= | |
| XM_011518143.1:c.1684C>T | XP_011516445.1:p.Leu562= | |
| XM_011518145.1:c.1543C>T | XP_011516447.1:p.Leu515= | |
| XM_011518147.1:c.871C>T | XP_011516449.1:p.Leu291= | |
| XR_929703.1:n.2175C>T | ||
| NM_001353193.1:c.1999C>T | NP_001340122.1:p.Leu667= | |
| NM_001353194.1:c.1771C>T | NP_001340123.1:p.Leu591= | |
| NM_001353195.1:c.1582C>T | NP_001340124.1:p.Leu528= | |
| NM_001353196.1:c.1843C>T | NP_001340125.1:p.Leu615= | |
| NM_001353197.1:c.1837C>T | NP_001340126.1:p.Leu613= | |
| NM_001353198.1:c.1837C>T | NP_001340127.1:p.Leu613= | |
| NM_001353199.1:c.1648C>T | NP_001340128.1:p.Leu550= | |
| NM_001353200.1:c.1477C>T | NP_001340129.1:p.Leu493= | |
| NR_148391.1:n.1983C>T | ||
| NR_148392.1:n.2201C>T | ||
| NR_148393.1:n.2122C>T | ||
| NR_148394.1:n.1876C>T | ||
| NR_148395.1:n.2274C>T | ||
| NR_148396.1:n.1908C>T | ||
| NR_148397.1:n.2033C>T | ||
| NR_148398.1:n.1988C>T | ||
| NR_148399.1:n.2514C>T | ||
| NR_148400.1:n.2113C>T | ||
| XM_005272162.3:c.802C>T | XP_005272219.1:p.Leu268= | |
| XM_006716932.2:c.1648C>T | XP_006716995.1:p.Leu550= | |
| XM_011518140.2:c.1852C>T | XP_011516442.1:p.Leu618= | |
| XM_011518141.2:c.1786C>T | XP_011516443.1:p.Leu596= | |
| XM_011518142.2:c.1690C>T | XP_011516444.1:p.Leu564= | |
| XM_011518143.2:c.1684C>T | XP_011516445.1:p.Leu562= | |
| XM_011518145.2:c.1543C>T | XP_011516447.1:p.Leu515= | |
| XM_017014205.2:c.802C>T | XP_016869694.1:p.Leu268= | |
| XM_024447380.1:c.802C>T | XP_024303148.1:p.Leu268= | |
| XM_024447381.1:c.1108C>T | XP_024303149.1:p.Leu370= | |
| XM_024447382.1:c.802C>T | XP_024303150.1:p.Leu268= | |
| XR_001746160.2:n.2103C>T | ||
| XR_001746162.2:n.2308C>T | ||
| XR_001746164.1:n.2025C>T | ||
| XR_001746166.2:n.2320C>T | ||
| NM_001077365.2:c.1933C>T MANE Select | NP_001070833.1:p.Leu645= | |
| NM_001077366.2:c.1771C>T | NP_001070834.1:p.Leu591= | |
| NM_001136113.2:c.1933C>T | NP_001129585.1:p.Leu645= | |
| NM_001136114.2:c.1582C>T | NP_001129586.1:p.Leu528= | |
| NM_001353193.2:c.1999C>T | NP_001340122.2:p.Leu667= | |
| NM_001353194.2:c.1771C>T | NP_001340123.1:p.Leu591= | |
| NM_001353195.2:c.1582C>T | NP_001340124.1:p.Leu528= | |
| NM_001353196.2:c.1843C>T | NP_001340125.1:p.Leu615= | |
| NM_001353197.2:c.1837C>T | NP_001340126.2:p.Leu613= | |
| NM_001353198.2:c.1837C>T | NP_001340127.2:p.Leu613= | |
| NM_001353199.2:c.1648C>T | NP_001340128.2:p.Leu550= | |
| NM_001353200.2:c.1477C>T | NP_001340129.1:p.Leu493= | |
| NM_001374689.1:c.1921C>T | NP_001361618.1:p.Leu641= | |
| NM_001374690.1:c.1714C>T | NP_001361619.1:p.Leu572= | |
| NM_001374691.1:c.1582C>T | NP_001361620.1:p.Leu528= | |
| NM_001374692.1:c.1582C>T | NP_001361621.1:p.Leu528= | |
| NM_001374693.1:c.1582C>T | NP_001361622.1:p.Leu528= | |
| NM_001374695.1:c.1543C>T | NP_001361624.1:p.Leu515= | |
| NM_007171.4:c.1999C>T | NP_009102.4:p.Leu667= | |
| NR_148391.2:n.1967C>T | ||
| NR_148392.2:n.2185C>T | ||
| NR_148393.2:n.2106C>T | ||
| NR_148394.2:n.1860C>T | ||
| NR_148395.2:n.2258C>T | ||
| NR_148396.2:n.1892C>T | ||
| NR_148397.2:n.2017C>T | ||
| NR_148398.2:n.1972C>T | ||
| NR_148399.2:n.2498C>T | ||
| NR_148400.2:n.2097C>T |