Linked Data
ClinVar Variation Id:
288600
dbSNP Id:
rs886043948
gnomAD v2:
9-134398373-C-T
gnomAD v3:
9-131522986-C-T
gnomAD v4:
9-131522986-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.131522986C>T , CM000671.2:g.131522986C>T | GRCh38 |
| NC_000009.11:g.134398373C>T , CM000671.1:g.134398373C>T | GRCh37 |
| NC_000009.10:g.133388194C>T | NCBI36 |
| NG_008896.1:g.25085C>T | |
| NG_008896.2:g.25085C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341012.13:c.1896C>T | ENSP00000343034.7:p.Ser632= | |
| ENST00000404875.7:n.2598C>T | ||
| ENST00000423007.6:c.2115C>T | ENSP00000404119.2:p.Ser705= | |
| ENST00000677295.2:c.*2402C>T | ENSP00000504346.2:n.*2402C>T | |
| ENST00000678264.2:c.*2241C>T | ENSP00000503157.2:n.*2241C>T | |
| ENST00000682070.1:n.2368C>T | ||
| ENST00000682639.1:c.55C>T | ||
| ENST00000682813.1:n.2455C>T | ||
| ENST00000683231.1:c.55C>T | ||
| ENST00000683392.1:n.4650C>T | ||
| ENST00000683712.1:n.2463C>T | ||
| ENST00000683900.1:n.3958C>T | ||
| ENST00000684062.1:n.2724C>T | ||
| ENST00000684399.1:c.55C>T | ||
| ENST00000684579.1:n.3904C>T | ||
| ENST00000341012.12:c.1896C>T | ENSP00000343034.7:p.Ser632= | |
| ENST00000372220.5:c.927C>T | ENSP00000361294.5:p.Ser309= | |
| ENST00000372228.9:c.2124C>T | ENSP00000361302.3:p.Ser708= | |
| ENST00000402686.8:c.2058C>T MANE Select | ENSP00000385797.4:p.Ser686= | |
| ENST00000676640.1:c.2058C>T | ENSP00000503281.1:p.Ser686= | |
| ENST00000676803.1:c.1119C>T | ENSP00000503093.1:p.Ser373= | |
| ENST00000676835.1:c.*1273C>T | ENSP00000502911.1:n.*1273C>T | |
| ENST00000677029.1:c.1602C>T | ENSP00000502936.1:p.Ser534= | |
| ENST00000677099.1:c.*1768C>T | ENSP00000504553.1:n.*1768C>T | |
| ENST00000677216.1:c.1707C>T | ENSP00000503772.1:p.Ser569= | |
| ENST00000677221.1:n.1083C>T | ||
| ENST00000677295.1:c.*1280C>T | ENSP00000504346.1:n.*1280C>T | |
| ENST00000677444.1:c.2003C>T | ||
| ENST00000677586.1:n.1425C>T | ||
| ENST00000677626.1:c.1707C>T | ENSP00000503552.1:p.Ser569= | |
| ENST00000677853.1:c.*1066C>T | ENSP00000503488.1:n.*1066C>T | |
| ENST00000678264.1:c.*1435C>T | ENSP00000503157.1:n.*1435C>T | |
| ENST00000678303.1:c.1968C>T | ENSP00000503696.1:p.Ser656= | |
| ENST00000678366.1:c.*2307C>T | ENSP00000504353.1:n.*2307C>T | |
| ENST00000678546.1:c.*2003C>T | ENSP00000503062.1:n.*2003C>T | |
| ENST00000678548.1:c.*2197C>T | ENSP00000503934.1:n.*2197C>T | |
| ENST00000678626.1:n.1894C>T | ||
| ENST00000678739.1:c.*2224C>T | ENSP00000503806.1:n.*2224C>T | |
| ENST00000678833.1:c.*1810C>T | ENSP00000503893.1:n.*1810C>T | |
| ENST00000679023.1:c.1896C>T | ENSP00000503718.1:p.Ser632= | |
| ENST00000679076.1:c.1677C>T | ||
| ENST00000679111.1:c.*814C>T | ENSP00000504257.1:n.*814C>T | |
| ENST00000679189.1:c.1707C>T | ENSP00000503356.1:p.Ser569= | |
| ENST00000341012.11:c.1896C>T | ENSP00000343034.7:p.Ser632= | |
| ENST00000372220.4:c.921C>T | ENSP00000361294.4:p.Ser307= | |
| ENST00000372228.7:c.2124C>T | ENSP00000361302.3:p.Ser708= | |
| ENST00000402686.7:c.2058C>T | ENSP00000385797.3:p.Ser686= | |
| ENST00000404875.6:c.1707C>T | ENSP00000384531.2:p.Ser569= | |
| ENST00000423007.5:c.2058C>T | ENSP00000404119.1:p.Ser686= | |
| ENST00000485278.5:n.2608C>T | ||
| NM_001077365.1:c.2058C>T | NP_001070833.1:p.Ser686= | |
| NM_001077366.1:c.1896C>T | NP_001070834.1:p.Ser632= | |
| NM_001136113.1:c.2058C>T | NP_001129585.1:p.Ser686= | |
| NM_001136114.1:c.1707C>T | NP_001129586.1:p.Ser569= | |
| NM_007171.3:c.2124C>T | NP_009102.3:p.Ser708= | |
| XM_005272156.1:c.2124C>T | XP_005272213.1:p.Ser708= | |
| XM_005272158.1:c.1962C>T | XP_005272215.1:p.Ser654= | |
| XM_005272159.1:c.1773C>T | XP_005272216.1:p.Ser591= | |
| XM_005272162.1:c.927C>T | XP_005272219.1:p.Ser309= | |
| XM_006716932.1:c.1773C>T | XP_006716995.1:p.Ser591= | |
| XM_011518140.1:c.1977C>T | XP_011516442.1:p.Ser659= | |
| XM_011518141.1:c.1911C>T | XP_011516443.1:p.Ser637= | |
| XM_011518142.1:c.1815C>T | XP_011516444.1:p.Ser605= | |
| XM_011518143.1:c.1809C>T | XP_011516445.1:p.Ser603= | |
| XM_011518145.1:c.1668C>T | XP_011516447.1:p.Ser556= | |
| XM_011518147.1:c.996C>T | XP_011516449.1:p.Ser332= | |
| XR_929703.1:n.2300C>T | ||
| NM_001353193.1:c.2124C>T | NP_001340122.1:p.Ser708= | |
| NM_001353194.1:c.1896C>T | NP_001340123.1:p.Ser632= | |
| NM_001353195.1:c.1707C>T | NP_001340124.1:p.Ser569= | |
| NM_001353196.1:c.1968C>T | NP_001340125.1:p.Ser656= | |
| NM_001353197.1:c.1962C>T | NP_001340126.1:p.Ser654= | |
| NM_001353198.1:c.1962C>T | NP_001340127.1:p.Ser654= | |
| NM_001353199.1:c.1773C>T | NP_001340128.1:p.Ser591= | |
| NM_001353200.1:c.1602C>T | NP_001340129.1:p.Ser534= | |
| NR_148391.1:n.2108C>T | ||
| NR_148392.1:n.2326C>T | ||
| NR_148393.1:n.2247C>T | ||
| NR_148394.1:n.2001C>T | ||
| NR_148395.1:n.2399C>T | ||
| NR_148396.1:n.2033C>T | ||
| NR_148397.1:n.2158C>T | ||
| NR_148398.1:n.2113C>T | ||
| NR_148399.1:n.2639C>T | ||
| NR_148400.1:n.2238C>T | ||
| XM_005272162.3:c.927C>T | XP_005272219.1:p.Ser309= | |
| XM_006716932.2:c.1773C>T | XP_006716995.1:p.Ser591= | |
| XM_011518140.2:c.1977C>T | XP_011516442.1:p.Ser659= | |
| XM_011518141.2:c.1911C>T | XP_011516443.1:p.Ser637= | |
| XM_011518142.2:c.1815C>T | XP_011516444.1:p.Ser605= | |
| XM_011518143.2:c.1809C>T | XP_011516445.1:p.Ser603= | |
| XM_011518145.2:c.1668C>T | XP_011516447.1:p.Ser556= | |
| XM_017014205.2:c.927C>T | XP_016869694.1:p.Ser309= | |
| XM_024447380.1:c.927C>T | XP_024303148.1:p.Ser309= | |
| XM_024447381.1:c.1233C>T | XP_024303149.1:p.Ser411= | |
| XM_024447382.1:c.927C>T | XP_024303150.1:p.Ser309= | |
| XR_001746160.2:n.2228C>T | ||
| XR_001746162.2:n.2433C>T | ||
| XR_001746164.1:n.2150C>T | ||
| XR_001746166.2:n.2445C>T | ||
| NM_001077365.2:c.2058C>T MANE Select | NP_001070833.1:p.Ser686= | |
| NM_001077366.2:c.1896C>T | NP_001070834.1:p.Ser632= | |
| NM_001136113.2:c.2058C>T | NP_001129585.1:p.Ser686= | |
| NM_001136114.2:c.1707C>T | NP_001129586.1:p.Ser569= | |
| NM_001353193.2:c.2124C>T | NP_001340122.2:p.Ser708= | |
| NM_001353194.2:c.1896C>T | NP_001340123.1:p.Ser632= | |
| NM_001353195.2:c.1707C>T | NP_001340124.1:p.Ser569= | |
| NM_001353196.2:c.1968C>T | NP_001340125.1:p.Ser656= | |
| NM_001353197.2:c.1962C>T | NP_001340126.2:p.Ser654= | |
| NM_001353198.2:c.1962C>T | NP_001340127.2:p.Ser654= | |
| NM_001353199.2:c.1773C>T | NP_001340128.2:p.Ser591= | |
| NM_001353200.2:c.1602C>T | NP_001340129.1:p.Ser534= | |
| NM_001374689.1:c.2046C>T | NP_001361618.1:p.Ser682= | |
| NM_001374690.1:c.1839C>T | NP_001361619.1:p.Ser613= | |
| NM_001374691.1:c.1707C>T | NP_001361620.1:p.Ser569= | |
| NM_001374692.1:c.1707C>T | NP_001361621.1:p.Ser569= | |
| NM_001374693.1:c.1707C>T | NP_001361622.1:p.Ser569= | |
| NM_001374695.1:c.1668C>T | NP_001361624.1:p.Ser556= | |
| NM_007171.4:c.2124C>T | NP_009102.4:p.Ser708= | |
| NR_148391.2:n.2092C>T | ||
| NR_148392.2:n.2310C>T | ||
| NR_148393.2:n.2231C>T | ||
| NR_148394.2:n.1985C>T | ||
| NR_148395.2:n.2383C>T | ||
| NR_148396.2:n.2017C>T | ||
| NR_148397.2:n.2142C>T | ||
| NR_148398.2:n.2097C>T | ||
| NR_148399.2:n.2623C>T | ||
| NR_148400.2:n.2222C>T |