Linked Data
ClinVar Variation Id:
3250
dbSNP Id:
rs119462987
gnomAD v2:
9-134397547-G-A
gnomAD v3:
9-131522160-G-A
gnomAD v4:
9-131522160-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.131522160G>A , CM000671.2:g.131522160G>A | GRCh38 |
| NC_000009.11:g.134397547G>A , CM000671.1:g.134397547G>A | GRCh37 |
| NC_000009.10:g.133387368G>A | NCBI36 |
| NG_008896.1:g.24259G>A | |
| NG_008896.2:g.24259G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341012.13:c.1777G>A | ENSP00000343034.7:p.Ala593Thr | |
| ENST00000404875.7:n.2479G>A | ||
| ENST00000423007.6:c.1996G>A | ENSP00000404119.2:p.Ala666Thr | |
| ENST00000677295.2:c.*2283G>A | ENSP00000504346.2:n.*2283G>A | |
| ENST00000678264.2:c.*2122G>A | ENSP00000503157.2:n.*2122G>A | |
| ENST00000682070.1:n.2291-42G>A | ||
| ENST00000682813.1:n.2343G>A | ||
| ENST00000683392.1:n.4573-42G>A | ||
| ENST00000683712.1:n.2344G>A | ||
| ENST00000683900.1:n.3839G>A | ||
| ENST00000684062.1:n.2605G>A | ||
| ENST00000684579.1:n.3785G>A | ||
| ENST00000684679.1:n.1166G>A | ||
| ENST00000341012.12:c.1777G>A | ENSP00000343034.7:p.Ala593Thr | |
| ENST00000372220.5:c.808G>A | ENSP00000361294.5:p.Ala270Thr | |
| ENST00000372228.9:c.2005G>A | ENSP00000361302.3:p.Ala669Thr | |
| ENST00000402686.8:c.1939G>A MANE Select | ENSP00000385797.4:p.Ala647Thr | |
| ENST00000676640.1:c.1939G>A | ENSP00000503281.1:p.Ala647Thr | |
| ENST00000676803.1:c.1000G>A | ENSP00000503093.1:p.Ala334Thr | |
| ENST00000676835.1:c.*1154G>A | ENSP00000502911.1:n.*1154G>A | |
| ENST00000677029.1:c.1483G>A | ENSP00000502936.1:p.Ala495Thr | |
| ENST00000677099.1:c.*1649G>A | ENSP00000504553.1:n.*1649G>A | |
| ENST00000677216.1:c.1588G>A | ENSP00000503772.1:p.Ala530Thr | |
| ENST00000677221.1:n.964G>A | ||
| ENST00000677295.1:c.*1203-42G>A | ENSP00000504346.1:n.*1203-42G>A | |
| ENST00000677444.1:c.1884G>A | ||
| ENST00000677586.1:n.1306G>A | ||
| ENST00000677626.1:c.1588G>A | ENSP00000503552.1:p.Ala530Thr | |
| ENST00000677853.1:c.*947G>A | ENSP00000503488.1:n.*947G>A | |
| ENST00000678202.1:n.1098G>A | ||
| ENST00000678264.1:c.*1316G>A | ENSP00000503157.1:n.*1316G>A | |
| ENST00000678303.1:c.1849G>A | ENSP00000503696.1:p.Ala617Thr | |
| ENST00000678366.1:c.*2188G>A | ENSP00000504353.1:n.*2188G>A | |
| ENST00000678546.1:c.*1884G>A | ENSP00000503062.1:n.*1884G>A | |
| ENST00000678548.1:c.*2078G>A | ENSP00000503934.1:n.*2078G>A | |
| ENST00000678626.1:n.1775G>A | ||
| ENST00000678739.1:c.*2147-42G>A | ENSP00000503806.1:n.*2147-42G>A | |
| ENST00000678833.1:c.*1691G>A | ENSP00000503893.1:n.*1691G>A | |
| ENST00000679023.1:c.1777G>A | ENSP00000503718.1:p.Ala593Thr | |
| ENST00000679076.1:c.1558G>A | ||
| ENST00000679111.1:c.*695G>A | ENSP00000504257.1:n.*695G>A | |
| ENST00000679189.1:c.1588G>A | ENSP00000503356.1:p.Ala530Thr | |
| ENST00000341012.11:c.1777G>A | ENSP00000343034.7:p.Ala593Thr | |
| ENST00000372220.4:c.802G>A | ENSP00000361294.4:p.Ala268Thr | |
| ENST00000372228.7:c.2005G>A | ENSP00000361302.3:p.Ala669Thr | |
| ENST00000402686.7:c.1939G>A | ENSP00000385797.3:p.Ala647Thr | |
| ENST00000404875.6:c.1588G>A | ENSP00000384531.2:p.Ala530Thr | |
| ENST00000423007.5:c.1939G>A | ENSP00000404119.1:p.Ala647Thr | |
| ENST00000485278.5:n.2489G>A | ||
| ENST00000494883.1:n.482G>A | ||
| NM_001077365.1:c.1939G>A | NP_001070833.1:p.Ala647Thr | |
| NM_001077366.1:c.1777G>A | NP_001070834.1:p.Ala593Thr | |
| NM_001136113.1:c.1939G>A | NP_001129585.1:p.Ala647Thr | |
| NM_001136114.1:c.1588G>A | NP_001129586.1:p.Ala530Thr | |
| NM_007171.3:c.2005G>A | NP_009102.3:p.Ala669Thr | |
| XM_005272156.1:c.2005G>A | XP_005272213.1:p.Ala669Thr | |
| XM_005272158.1:c.1843G>A | XP_005272215.1:p.Ala615Thr | |
| XM_005272159.1:c.1654G>A | XP_005272216.1:p.Ala552Thr | |
| XM_005272162.1:c.808G>A | XP_005272219.1:p.Ala270Thr | |
| XM_006716932.1:c.1654G>A | XP_006716995.1:p.Ala552Thr | |
| XM_011518140.1:c.1858G>A | XP_011516442.1:p.Ala620Thr | |
| XM_011518141.1:c.1792G>A | XP_011516443.1:p.Ala598Thr | |
| XM_011518142.1:c.1696G>A | XP_011516444.1:p.Ala566Thr | |
| XM_011518143.1:c.1690G>A | XP_011516445.1:p.Ala564Thr | |
| XM_011518145.1:c.1549G>A | XP_011516447.1:p.Ala517Thr | |
| XM_011518147.1:c.877G>A | XP_011516449.1:p.Ala293Thr | |
| XR_929703.1:n.2181G>A | ||
| NM_001353193.1:c.2005G>A | NP_001340122.1:p.Ala669Thr | |
| NM_001353194.1:c.1777G>A | NP_001340123.1:p.Ala593Thr | |
| NM_001353195.1:c.1588G>A | NP_001340124.1:p.Ala530Thr | |
| NM_001353196.1:c.1849G>A | NP_001340125.1:p.Ala617Thr | |
| NM_001353197.1:c.1843G>A | NP_001340126.1:p.Ala615Thr | |
| NM_001353198.1:c.1843G>A | NP_001340127.1:p.Ala615Thr | |
| NM_001353199.1:c.1654G>A | NP_001340128.1:p.Ala552Thr | |
| NM_001353200.1:c.1483G>A | NP_001340129.1:p.Ala495Thr | |
| NR_148391.1:n.1989G>A | ||
| NR_148392.1:n.2207G>A | ||
| NR_148393.1:n.2128G>A | ||
| NR_148394.1:n.1882G>A | ||
| NR_148395.1:n.2280G>A | ||
| NR_148396.1:n.1914G>A | ||
| NR_148397.1:n.2039G>A | ||
| NR_148398.1:n.1994G>A | ||
| NR_148399.1:n.2520G>A | ||
| NR_148400.1:n.2119G>A | ||
| XM_005272162.3:c.808G>A | XP_005272219.1:p.Ala270Thr | |
| XM_006716932.2:c.1654G>A | XP_006716995.1:p.Ala552Thr | |
| XM_011518140.2:c.1858G>A | XP_011516442.1:p.Ala620Thr | |
| XM_011518141.2:c.1792G>A | XP_011516443.1:p.Ala598Thr | |
| XM_011518142.2:c.1696G>A | XP_011516444.1:p.Ala566Thr | |
| XM_011518143.2:c.1690G>A | XP_011516445.1:p.Ala564Thr | |
| XM_011518145.2:c.1549G>A | XP_011516447.1:p.Ala517Thr | |
| XM_017014205.2:c.808G>A | XP_016869694.1:p.Ala270Thr | |
| XM_024447380.1:c.808G>A | XP_024303148.1:p.Ala270Thr | |
| XM_024447381.1:c.1114G>A | XP_024303149.1:p.Ala372Thr | |
| XM_024447382.1:c.808G>A | XP_024303150.1:p.Ala270Thr | |
| XR_001746160.2:n.2109G>A | ||
| XR_001746162.2:n.2314G>A | ||
| XR_001746164.1:n.2031G>A | ||
| XR_001746166.2:n.2326G>A | ||
| NM_001077365.2:c.1939G>A MANE Select | NP_001070833.1:p.Ala647Thr | |
| NM_001077366.2:c.1777G>A | NP_001070834.1:p.Ala593Thr | |
| NM_001136113.2:c.1939G>A | NP_001129585.1:p.Ala647Thr | |
| NM_001136114.2:c.1588G>A | NP_001129586.1:p.Ala530Thr | |
| NM_001353193.2:c.2005G>A | NP_001340122.2:p.Ala669Thr | |
| NM_001353194.2:c.1777G>A | NP_001340123.1:p.Ala593Thr | |
| NM_001353195.2:c.1588G>A | NP_001340124.1:p.Ala530Thr | |
| NM_001353196.2:c.1849G>A | NP_001340125.1:p.Ala617Thr | |
| NM_001353197.2:c.1843G>A | NP_001340126.2:p.Ala615Thr | |
| NM_001353198.2:c.1843G>A | NP_001340127.2:p.Ala615Thr | |
| NM_001353199.2:c.1654G>A | NP_001340128.2:p.Ala552Thr | |
| NM_001353200.2:c.1483G>A | NP_001340129.1:p.Ala495Thr | |
| NM_001374689.1:c.1927G>A | NP_001361618.1:p.Ala643Thr | |
| NM_001374690.1:c.1720G>A | NP_001361619.1:p.Ala574Thr | |
| NM_001374691.1:c.1588G>A | NP_001361620.1:p.Ala530Thr | |
| NM_001374692.1:c.1588G>A | NP_001361621.1:p.Ala530Thr | |
| NM_001374693.1:c.1588G>A | NP_001361622.1:p.Ala530Thr | |
| NM_001374695.1:c.1549G>A | NP_001361624.1:p.Ala517Thr | |
| NM_007171.4:c.2005G>A | NP_009102.4:p.Ala669Thr | |
| NR_148391.2:n.1973G>A | ||
| NR_148392.2:n.2191G>A | ||
| NR_148393.2:n.2112G>A | ||
| NR_148394.2:n.1866G>A | ||
| NR_148395.2:n.2264G>A | ||
| NR_148396.2:n.1898G>A | ||
| NR_148397.2:n.2023G>A | ||
| NR_148398.2:n.1978G>A | ||
| NR_148399.2:n.2504G>A | ||
| NR_148400.2:n.2103G>A |