Linked Data
ClinVar Variation Id:
373970
dbSNP Id:
rs202140413
ExAC:
9:134396827 G / A
gnomAD v2:
9-134396827-G-A
gnomAD v3:
9-131521440-G-A
gnomAD v4:
9-131521440-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.131521440G>A , CM000671.2:g.131521440G>A | GRCh38 |
| NC_000009.11:g.134396827G>A , CM000671.1:g.134396827G>A | GRCh37 |
| NC_000009.10:g.133386648G>A | NCBI36 |
| NG_008896.1:g.23539G>A | |
| NG_008896.2:g.23539G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000341012.13:c.1631G>A | ENSP00000343034.7:p.Arg544Gln | |
| ENST00000404875.7:n.2333G>A | ||
| ENST00000423007.6:c.1850G>A | ENSP00000404119.2:p.Arg617Gln | |
| ENST00000677295.2:c.*2137G>A | ENSP00000504346.2:n.*2137G>A | |
| ENST00000678264.2:c.*1976G>A | ENSP00000503157.2:n.*1976G>A | |
| ENST00000682070.1:n.2258G>A | ||
| ENST00000682813.1:n.2197G>A | ||
| ENST00000683392.1:n.4540G>A | ||
| ENST00000683712.1:n.2198G>A | ||
| ENST00000683900.1:n.3693G>A | ||
| ENST00000684062.1:n.2459G>A | ||
| ENST00000684579.1:n.3639G>A | ||
| ENST00000684679.1:n.1020G>A | ||
| ENST00000341012.12:c.1631G>A | ENSP00000343034.7:p.Arg544Gln | |
| ENST00000372220.5:c.662G>A | ENSP00000361294.5:p.Arg221Gln | |
| ENST00000372228.9:c.1859G>A | ENSP00000361302.3:p.Arg620Gln | |
| ENST00000402686.8:c.1793G>A MANE Select | ENSP00000385797.4:p.Arg598Gln | |
| ENST00000676640.1:c.1793G>A | ENSP00000503281.1:p.Arg598Gln | |
| ENST00000676803.1:c.854G>A | ENSP00000503093.1:p.Arg285Gln | |
| ENST00000676835.1:c.*1008G>A | ENSP00000502911.1:n.*1008G>A | |
| ENST00000677029.1:c.1337G>A | ENSP00000502936.1:p.Arg446Gln | |
| ENST00000677099.1:c.*1503G>A | ENSP00000504553.1:n.*1503G>A | |
| ENST00000677216.1:c.1442G>A | ENSP00000503772.1:p.Arg481Gln | |
| ENST00000677221.1:n.818G>A | ||
| ENST00000677295.1:c.*1170G>A | ENSP00000504346.1:n.*1170G>A | |
| ENST00000677444.1:c.1738G>A | ||
| ENST00000677586.1:n.1160G>A | ||
| ENST00000677626.1:c.1442G>A | ENSP00000503552.1:p.Arg481Gln | |
| ENST00000677853.1:c.*801G>A | ENSP00000503488.1:n.*801G>A | |
| ENST00000678202.1:n.952G>A | ||
| ENST00000678264.1:c.*1170G>A | ENSP00000503157.1:n.*1170G>A | |
| ENST00000678303.1:c.1703G>A | ENSP00000503696.1:p.Arg568Gln | |
| ENST00000678366.1:c.*2042G>A | ENSP00000504353.1:n.*2042G>A | |
| ENST00000678546.1:c.*1738G>A | ENSP00000503062.1:n.*1738G>A | |
| ENST00000678548.1:c.*1865G>A | ENSP00000503934.1:n.*1865G>A | |
| ENST00000678626.1:n.1629G>A | ||
| ENST00000678739.1:c.*2114G>A | ENSP00000503806.1:n.*2114G>A | |
| ENST00000678833.1:c.*1545G>A | ENSP00000503893.1:n.*1545G>A | |
| ENST00000679023.1:c.1631G>A | ENSP00000503718.1:p.Arg544Gln | |
| ENST00000679076.1:c.1412G>A | ||
| ENST00000679111.1:c.*549G>A | ENSP00000504257.1:n.*549G>A | |
| ENST00000679189.1:c.1442G>A | ENSP00000503356.1:p.Arg481Gln | |
| ENST00000341012.11:c.1631G>A | ENSP00000343034.7:p.Arg544Gln | |
| ENST00000372220.4:c.656G>A | ENSP00000361294.4:p.Arg219Gln | |
| ENST00000372228.7:c.1859G>A | ENSP00000361302.3:p.Arg620Gln | |
| ENST00000402686.7:c.1793G>A | ENSP00000385797.3:p.Arg598Gln | |
| ENST00000404875.6:c.1442G>A | ENSP00000384531.2:p.Arg481Gln | |
| ENST00000423007.5:c.1793G>A | ENSP00000404119.1:p.Arg598Gln | |
| ENST00000485278.5:n.2343G>A | ||
| ENST00000494883.1:n.336G>A | ||
| NM_001077365.1:c.1793G>A | NP_001070833.1:p.Arg598Gln | |
| NM_001077366.1:c.1631G>A | NP_001070834.1:p.Arg544Gln | |
| NM_001136113.1:c.1793G>A | NP_001129585.1:p.Arg598Gln | |
| NM_001136114.1:c.1442G>A | NP_001129586.1:p.Arg481Gln | |
| NM_007171.3:c.1859G>A | NP_009102.3:p.Arg620Gln | |
| XM_005272156.1:c.1859G>A | XP_005272213.1:p.Arg620Gln | |
| XM_005272158.1:c.1697G>A | XP_005272215.1:p.Arg566Gln | |
| XM_005272159.1:c.1508G>A | XP_005272216.1:p.Arg503Gln | |
| XM_005272162.1:c.662G>A | XP_005272219.1:p.Arg221Gln | |
| XM_006716932.1:c.1508G>A | XP_006716995.1:p.Arg503Gln | |
| XM_011518140.1:c.1712G>A | XP_011516442.1:p.Arg571Gln | |
| XM_011518141.1:c.1646G>A | XP_011516443.1:p.Arg549Gln | |
| XM_011518142.1:c.1550G>A | XP_011516444.1:p.Arg517Gln | |
| XM_011518143.1:c.1544G>A | XP_011516445.1:p.Arg515Gln | |
| XM_011518145.1:c.1403G>A | XP_011516447.1:p.Arg468Gln | |
| XM_011518147.1:c.731G>A | XP_011516449.1:p.Arg244Gln | |
| XR_929703.1:n.2035G>A | ||
| NM_001353193.1:c.1859G>A | NP_001340122.1:p.Arg620Gln | |
| NM_001353194.1:c.1631G>A | NP_001340123.1:p.Arg544Gln | |
| NM_001353195.1:c.1442G>A | NP_001340124.1:p.Arg481Gln | |
| NM_001353196.1:c.1703G>A | NP_001340125.1:p.Arg568Gln | |
| NM_001353197.1:c.1697G>A | NP_001340126.1:p.Arg566Gln | |
| NM_001353198.1:c.1697G>A | NP_001340127.1:p.Arg566Gln | |
| NM_001353199.1:c.1508G>A | NP_001340128.1:p.Arg503Gln | |
| NM_001353200.1:c.1337G>A | NP_001340129.1:p.Arg446Gln | |
| NR_148391.1:n.1843G>A | ||
| NR_148392.1:n.2061G>A | ||
| NR_148393.1:n.1982G>A | ||
| NR_148394.1:n.1736G>A | ||
| NR_148395.1:n.2134G>A | ||
| NR_148396.1:n.1768G>A | ||
| NR_148397.1:n.1893G>A | ||
| NR_148398.1:n.1848G>A | ||
| NR_148399.1:n.2374G>A | ||
| NR_148400.1:n.1973G>A | ||
| XM_005272162.3:c.662G>A | XP_005272219.1:p.Arg221Gln | |
| XM_006716932.2:c.1508G>A | XP_006716995.1:p.Arg503Gln | |
| XM_011518140.2:c.1712G>A | XP_011516442.1:p.Arg571Gln | |
| XM_011518141.2:c.1646G>A | XP_011516443.1:p.Arg549Gln | |
| XM_011518142.2:c.1550G>A | XP_011516444.1:p.Arg517Gln | |
| XM_011518143.2:c.1544G>A | XP_011516445.1:p.Arg515Gln | |
| XM_011518145.2:c.1403G>A | XP_011516447.1:p.Arg468Gln | |
| XM_017014205.2:c.662G>A | XP_016869694.1:p.Arg221Gln | |
| XM_024447380.1:c.662G>A | XP_024303148.1:p.Arg221Gln | |
| XM_024447381.1:c.968G>A | XP_024303149.1:p.Arg323Gln | |
| XM_024447382.1:c.662G>A | XP_024303150.1:p.Arg221Gln | |
| XR_001746160.2:n.1963G>A | ||
| XR_001746162.2:n.2168G>A | ||
| XR_001746164.1:n.1885G>A | ||
| XR_001746166.2:n.2180G>A | ||
| NM_001077365.2:c.1793G>A MANE Select | NP_001070833.1:p.Arg598Gln | |
| NM_001077366.2:c.1631G>A | NP_001070834.1:p.Arg544Gln | |
| NM_001136113.2:c.1793G>A | NP_001129585.1:p.Arg598Gln | |
| NM_001136114.2:c.1442G>A | NP_001129586.1:p.Arg481Gln | |
| NM_001353193.2:c.1859G>A | NP_001340122.2:p.Arg620Gln | |
| NM_001353194.2:c.1631G>A | NP_001340123.1:p.Arg544Gln | |
| NM_001353195.2:c.1442G>A | NP_001340124.1:p.Arg481Gln | |
| NM_001353196.2:c.1703G>A | NP_001340125.1:p.Arg568Gln | |
| NM_001353197.2:c.1697G>A | NP_001340126.2:p.Arg566Gln | |
| NM_001353198.2:c.1697G>A | NP_001340127.2:p.Arg566Gln | |
| NM_001353199.2:c.1508G>A | NP_001340128.2:p.Arg503Gln | |
| NM_001353200.2:c.1337G>A | NP_001340129.1:p.Arg446Gln | |
| NM_001374689.1:c.1781G>A | NP_001361618.1:p.Arg594Gln | |
| NM_001374690.1:c.1574G>A | NP_001361619.1:p.Arg525Gln | |
| NM_001374691.1:c.1442G>A | NP_001361620.1:p.Arg481Gln | |
| NM_001374692.1:c.1442G>A | NP_001361621.1:p.Arg481Gln | |
| NM_001374693.1:c.1442G>A | NP_001361622.1:p.Arg481Gln | |
| NM_001374695.1:c.1403G>A | NP_001361624.1:p.Arg468Gln | |
| NM_007171.4:c.1859G>A | NP_009102.4:p.Arg620Gln | |
| NR_148391.2:n.1827G>A | ||
| NR_148392.2:n.2045G>A | ||
| NR_148393.2:n.1966G>A | ||
| NR_148394.2:n.1720G>A | ||
| NR_148395.2:n.2118G>A | ||
| NR_148396.2:n.1752G>A | ||
| NR_148397.2:n.1877G>A | ||
| NR_148398.2:n.1832G>A | ||
| NR_148399.2:n.2358G>A | ||
| NR_148400.2:n.1957G>A |