Linked Data
ClinVar Variation Id:
499640
dbSNP Id:
rs778418119
ExAC:
9:134398346 C / T
gnomAD v2:
9-134398346-C-T
gnomAD v3:
9-131522959-C-T
gnomAD v4:
9-131522959-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.131522959C>T , CM000671.2:g.131522959C>T | GRCh38 |
| NC_000009.11:g.134398346C>T , CM000671.1:g.134398346C>T | GRCh37 |
| NC_000009.10:g.133388167C>T | NCBI36 |
| NG_008896.1:g.25058C>T | |
| NG_008896.2:g.25058C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341012.13:c.1869C>T | ENSP00000343034.7:p.Ser623= | |
| ENST00000404875.7:n.2571C>T | ||
| ENST00000423007.6:c.2088C>T | ENSP00000404119.2:p.Ser696= | |
| ENST00000677295.2:c.*2375C>T | ENSP00000504346.2:n.*2375C>T | |
| ENST00000678264.2:c.*2214C>T | ENSP00000503157.2:n.*2214C>T | |
| ENST00000682070.1:n.2341C>T | ||
| ENST00000682639.1:c.28C>T | ||
| ENST00000682813.1:n.2428C>T | ||
| ENST00000683231.1:c.28C>T | ||
| ENST00000683392.1:n.4623C>T | ||
| ENST00000683712.1:n.2436C>T | ||
| ENST00000683900.1:n.3931C>T | ||
| ENST00000684062.1:n.2697C>T | ||
| ENST00000684399.1:c.28C>T | ||
| ENST00000684579.1:n.3877C>T | ||
| ENST00000341012.12:c.1869C>T | ENSP00000343034.7:p.Ser623= | |
| ENST00000372220.5:c.900C>T | ENSP00000361294.5:p.Ser300= | |
| ENST00000372228.9:c.2097C>T | ENSP00000361302.3:p.Ser699= | |
| ENST00000402686.8:c.2031C>T MANE Select | ENSP00000385797.4:p.Ser677= | |
| ENST00000676640.1:c.2031C>T | ENSP00000503281.1:p.Ser677= | |
| ENST00000676803.1:c.1092C>T | ENSP00000503093.1:p.Ser364= | |
| ENST00000676835.1:c.*1246C>T | ENSP00000502911.1:n.*1246C>T | |
| ENST00000677029.1:c.1575C>T | ENSP00000502936.1:p.Ser525= | |
| ENST00000677099.1:c.*1741C>T | ENSP00000504553.1:n.*1741C>T | |
| ENST00000677216.1:c.1680C>T | ENSP00000503772.1:p.Ser560= | |
| ENST00000677221.1:n.1056C>T | ||
| ENST00000677295.1:c.*1253C>T | ENSP00000504346.1:n.*1253C>T | |
| ENST00000677444.1:c.1976C>T | ||
| ENST00000677586.1:n.1398C>T | ||
| ENST00000677626.1:c.1680C>T | ENSP00000503552.1:p.Ser560= | |
| ENST00000677853.1:c.*1039C>T | ENSP00000503488.1:n.*1039C>T | |
| ENST00000678264.1:c.*1408C>T | ENSP00000503157.1:n.*1408C>T | |
| ENST00000678303.1:c.1941C>T | ENSP00000503696.1:p.Ser647= | |
| ENST00000678366.1:c.*2280C>T | ENSP00000504353.1:n.*2280C>T | |
| ENST00000678546.1:c.*1976C>T | ENSP00000503062.1:n.*1976C>T | |
| ENST00000678548.1:c.*2170C>T | ENSP00000503934.1:n.*2170C>T | |
| ENST00000678626.1:n.1867C>T | ||
| ENST00000678739.1:c.*2197C>T | ENSP00000503806.1:n.*2197C>T | |
| ENST00000678833.1:c.*1783C>T | ENSP00000503893.1:n.*1783C>T | |
| ENST00000679023.1:c.1869C>T | ENSP00000503718.1:p.Ser623= | |
| ENST00000679076.1:c.1650C>T | ||
| ENST00000679111.1:c.*787C>T | ENSP00000504257.1:n.*787C>T | |
| ENST00000679189.1:c.1680C>T | ENSP00000503356.1:p.Ser560= | |
| ENST00000341012.11:c.1869C>T | ENSP00000343034.7:p.Ser623= | |
| ENST00000372220.4:c.894C>T | ENSP00000361294.4:p.Ser298= | |
| ENST00000372228.7:c.2097C>T | ENSP00000361302.3:p.Ser699= | |
| ENST00000402686.7:c.2031C>T | ENSP00000385797.3:p.Ser677= | |
| ENST00000404875.6:c.1680C>T | ENSP00000384531.2:p.Ser560= | |
| ENST00000423007.5:c.2031C>T | ENSP00000404119.1:p.Ser677= | |
| ENST00000485278.5:n.2581C>T | ||
| NM_001077365.1:c.2031C>T | NP_001070833.1:p.Ser677= | |
| NM_001077366.1:c.1869C>T | NP_001070834.1:p.Ser623= | |
| NM_001136113.1:c.2031C>T | NP_001129585.1:p.Ser677= | |
| NM_001136114.1:c.1680C>T | NP_001129586.1:p.Ser560= | |
| NM_007171.3:c.2097C>T | NP_009102.3:p.Ser699= | |
| XM_005272156.1:c.2097C>T | XP_005272213.1:p.Ser699= | |
| XM_005272158.1:c.1935C>T | XP_005272215.1:p.Ser645= | |
| XM_005272159.1:c.1746C>T | XP_005272216.1:p.Ser582= | |
| XM_005272162.1:c.900C>T | XP_005272219.1:p.Ser300= | |
| XM_006716932.1:c.1746C>T | XP_006716995.1:p.Ser582= | |
| XM_011518140.1:c.1950C>T | XP_011516442.1:p.Ser650= | |
| XM_011518141.1:c.1884C>T | XP_011516443.1:p.Ser628= | |
| XM_011518142.1:c.1788C>T | XP_011516444.1:p.Ser596= | |
| XM_011518143.1:c.1782C>T | XP_011516445.1:p.Ser594= | |
| XM_011518145.1:c.1641C>T | XP_011516447.1:p.Ser547= | |
| XM_011518147.1:c.969C>T | XP_011516449.1:p.Ser323= | |
| XR_929703.1:n.2273C>T | ||
| NM_001353193.1:c.2097C>T | NP_001340122.1:p.Ser699= | |
| NM_001353194.1:c.1869C>T | NP_001340123.1:p.Ser623= | |
| NM_001353195.1:c.1680C>T | NP_001340124.1:p.Ser560= | |
| NM_001353196.1:c.1941C>T | NP_001340125.1:p.Ser647= | |
| NM_001353197.1:c.1935C>T | NP_001340126.1:p.Ser645= | |
| NM_001353198.1:c.1935C>T | NP_001340127.1:p.Ser645= | |
| NM_001353199.1:c.1746C>T | NP_001340128.1:p.Ser582= | |
| NM_001353200.1:c.1575C>T | NP_001340129.1:p.Ser525= | |
| NR_148391.1:n.2081C>T | ||
| NR_148392.1:n.2299C>T | ||
| NR_148393.1:n.2220C>T | ||
| NR_148394.1:n.1974C>T | ||
| NR_148395.1:n.2372C>T | ||
| NR_148396.1:n.2006C>T | ||
| NR_148397.1:n.2131C>T | ||
| NR_148398.1:n.2086C>T | ||
| NR_148399.1:n.2612C>T | ||
| NR_148400.1:n.2211C>T | ||
| XM_005272162.3:c.900C>T | XP_005272219.1:p.Ser300= | |
| XM_006716932.2:c.1746C>T | XP_006716995.1:p.Ser582= | |
| XM_011518140.2:c.1950C>T | XP_011516442.1:p.Ser650= | |
| XM_011518141.2:c.1884C>T | XP_011516443.1:p.Ser628= | |
| XM_011518142.2:c.1788C>T | XP_011516444.1:p.Ser596= | |
| XM_011518143.2:c.1782C>T | XP_011516445.1:p.Ser594= | |
| XM_011518145.2:c.1641C>T | XP_011516447.1:p.Ser547= | |
| XM_017014205.2:c.900C>T | XP_016869694.1:p.Ser300= | |
| XM_024447380.1:c.900C>T | XP_024303148.1:p.Ser300= | |
| XM_024447381.1:c.1206C>T | XP_024303149.1:p.Ser402= | |
| XM_024447382.1:c.900C>T | XP_024303150.1:p.Ser300= | |
| XR_001746160.2:n.2201C>T | ||
| XR_001746162.2:n.2406C>T | ||
| XR_001746164.1:n.2123C>T | ||
| XR_001746166.2:n.2418C>T | ||
| NM_001077365.2:c.2031C>T MANE Select | NP_001070833.1:p.Ser677= | |
| NM_001077366.2:c.1869C>T | NP_001070834.1:p.Ser623= | |
| NM_001136113.2:c.2031C>T | NP_001129585.1:p.Ser677= | |
| NM_001136114.2:c.1680C>T | NP_001129586.1:p.Ser560= | |
| NM_001353193.2:c.2097C>T | NP_001340122.2:p.Ser699= | |
| NM_001353194.2:c.1869C>T | NP_001340123.1:p.Ser623= | |
| NM_001353195.2:c.1680C>T | NP_001340124.1:p.Ser560= | |
| NM_001353196.2:c.1941C>T | NP_001340125.1:p.Ser647= | |
| NM_001353197.2:c.1935C>T | NP_001340126.2:p.Ser645= | |
| NM_001353198.2:c.1935C>T | NP_001340127.2:p.Ser645= | |
| NM_001353199.2:c.1746C>T | NP_001340128.2:p.Ser582= | |
| NM_001353200.2:c.1575C>T | NP_001340129.1:p.Ser525= | |
| NM_001374689.1:c.2019C>T | NP_001361618.1:p.Ser673= | |
| NM_001374690.1:c.1812C>T | NP_001361619.1:p.Ser604= | |
| NM_001374691.1:c.1680C>T | NP_001361620.1:p.Ser560= | |
| NM_001374692.1:c.1680C>T | NP_001361621.1:p.Ser560= | |
| NM_001374693.1:c.1680C>T | NP_001361622.1:p.Ser560= | |
| NM_001374695.1:c.1641C>T | NP_001361624.1:p.Ser547= | |
| NM_007171.4:c.2097C>T | NP_009102.4:p.Ser699= | |
| NR_148391.2:n.2065C>T | ||
| NR_148392.2:n.2283C>T | ||
| NR_148393.2:n.2204C>T | ||
| NR_148394.2:n.1958C>T | ||
| NR_148395.2:n.2356C>T | ||
| NR_148396.2:n.1990C>T | ||
| NR_148397.2:n.2115C>T | ||
| NR_148398.2:n.2070C>T | ||
| NR_148399.2:n.2596C>T | ||
| NR_148400.2:n.2195C>T |