Linked Data
ClinVar Variation Id:
285305
dbSNP Id:
rs150899645
ExAC:
9:134396829 C / T
gnomAD v2:
9-134396829-C-T
gnomAD v3:
9-131521442-C-T
gnomAD v4:
9-131521442-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.131521442C>T , CM000671.2:g.131521442C>T | GRCh38 |
| NC_000009.11:g.134396829C>T , CM000671.1:g.134396829C>T | GRCh37 |
| NC_000009.10:g.133386650C>T | NCBI36 |
| NG_008896.1:g.23541C>T | |
| NG_008896.2:g.23541C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341012.13:c.1633C>T | ENSP00000343034.7:p.Arg545Trp | |
| ENST00000404875.7:n.2335C>T | ||
| ENST00000423007.6:c.1852C>T | ENSP00000404119.2:p.Arg618Trp | |
| ENST00000677295.2:c.*2139C>T | ENSP00000504346.2:n.*2139C>T | |
| ENST00000678264.2:c.*1978C>T | ENSP00000503157.2:n.*1978C>T | |
| ENST00000682070.1:n.2260C>T | ||
| ENST00000682813.1:n.2199C>T | ||
| ENST00000683392.1:n.4542C>T | ||
| ENST00000683712.1:n.2200C>T | ||
| ENST00000683900.1:n.3695C>T | ||
| ENST00000684062.1:n.2461C>T | ||
| ENST00000684579.1:n.3641C>T | ||
| ENST00000684679.1:n.1022C>T | ||
| ENST00000341012.12:c.1633C>T | ENSP00000343034.7:p.Arg545Trp | |
| ENST00000372220.5:c.664C>T | ENSP00000361294.5:p.Arg222Trp | |
| ENST00000372228.9:c.1861C>T | ENSP00000361302.3:p.Arg621Trp | |
| ENST00000402686.8:c.1795C>T MANE Select | ENSP00000385797.4:p.Arg599Trp | |
| ENST00000676640.1:c.1795C>T | ENSP00000503281.1:p.Arg599Trp | |
| ENST00000676803.1:c.856C>T | ENSP00000503093.1:p.Arg286Trp | |
| ENST00000676835.1:c.*1010C>T | ENSP00000502911.1:n.*1010C>T | |
| ENST00000677029.1:c.1339C>T | ENSP00000502936.1:p.Arg447Trp | |
| ENST00000677099.1:c.*1505C>T | ENSP00000504553.1:n.*1505C>T | |
| ENST00000677216.1:c.1444C>T | ENSP00000503772.1:p.Arg482Trp | |
| ENST00000677221.1:n.820C>T | ||
| ENST00000677295.1:c.*1172C>T | ENSP00000504346.1:n.*1172C>T | |
| ENST00000677444.1:c.1740C>T | ||
| ENST00000677586.1:n.1162C>T | ||
| ENST00000677626.1:c.1444C>T | ENSP00000503552.1:p.Arg482Trp | |
| ENST00000677853.1:c.*803C>T | ENSP00000503488.1:n.*803C>T | |
| ENST00000678202.1:n.954C>T | ||
| ENST00000678264.1:c.*1172C>T | ENSP00000503157.1:n.*1172C>T | |
| ENST00000678303.1:c.1705C>T | ENSP00000503696.1:p.Arg569Trp | |
| ENST00000678366.1:c.*2044C>T | ENSP00000504353.1:n.*2044C>T | |
| ENST00000678546.1:c.*1740C>T | ENSP00000503062.1:n.*1740C>T | |
| ENST00000678548.1:c.*1867C>T | ENSP00000503934.1:n.*1867C>T | |
| ENST00000678626.1:n.1631C>T | ||
| ENST00000678739.1:c.*2116C>T | ENSP00000503806.1:n.*2116C>T | |
| ENST00000678833.1:c.*1547C>T | ENSP00000503893.1:n.*1547C>T | |
| ENST00000679023.1:c.1633C>T | ENSP00000503718.1:p.Arg545Trp | |
| ENST00000679076.1:c.1414C>T | ||
| ENST00000679111.1:c.*551C>T | ENSP00000504257.1:n.*551C>T | |
| ENST00000679189.1:c.1444C>T | ENSP00000503356.1:p.Arg482Trp | |
| ENST00000341012.11:c.1633C>T | ENSP00000343034.7:p.Arg545Trp | |
| ENST00000372220.4:c.658C>T | ENSP00000361294.4:p.Arg220Trp | |
| ENST00000372228.7:c.1861C>T | ENSP00000361302.3:p.Arg621Trp | |
| ENST00000402686.7:c.1795C>T | ENSP00000385797.3:p.Arg599Trp | |
| ENST00000404875.6:c.1444C>T | ENSP00000384531.2:p.Arg482Trp | |
| ENST00000423007.5:c.1795C>T | ENSP00000404119.1:p.Arg599Trp | |
| ENST00000485278.5:n.2345C>T | ||
| ENST00000494883.1:n.338C>T | ||
| NM_001077365.1:c.1795C>T | NP_001070833.1:p.Arg599Trp | |
| NM_001077366.1:c.1633C>T | NP_001070834.1:p.Arg545Trp | |
| NM_001136113.1:c.1795C>T | NP_001129585.1:p.Arg599Trp | |
| NM_001136114.1:c.1444C>T | NP_001129586.1:p.Arg482Trp | |
| NM_007171.3:c.1861C>T | NP_009102.3:p.Arg621Trp | |
| XM_005272156.1:c.1861C>T | XP_005272213.1:p.Arg621Trp | |
| XM_005272158.1:c.1699C>T | XP_005272215.1:p.Arg567Trp | |
| XM_005272159.1:c.1510C>T | XP_005272216.1:p.Arg504Trp | |
| XM_005272162.1:c.664C>T | XP_005272219.1:p.Arg222Trp | |
| XM_006716932.1:c.1510C>T | XP_006716995.1:p.Arg504Trp | |
| XM_011518140.1:c.1714C>T | XP_011516442.1:p.Arg572Trp | |
| XM_011518141.1:c.1648C>T | XP_011516443.1:p.Arg550Trp | |
| XM_011518142.1:c.1552C>T | XP_011516444.1:p.Arg518Trp | |
| XM_011518143.1:c.1546C>T | XP_011516445.1:p.Arg516Trp | |
| XM_011518145.1:c.1405C>T | XP_011516447.1:p.Arg469Trp | |
| XM_011518147.1:c.733C>T | XP_011516449.1:p.Arg245Trp | |
| XR_929703.1:n.2037C>T | ||
| NM_001353193.1:c.1861C>T | NP_001340122.1:p.Arg621Trp | |
| NM_001353194.1:c.1633C>T | NP_001340123.1:p.Arg545Trp | |
| NM_001353195.1:c.1444C>T | NP_001340124.1:p.Arg482Trp | |
| NM_001353196.1:c.1705C>T | NP_001340125.1:p.Arg569Trp | |
| NM_001353197.1:c.1699C>T | NP_001340126.1:p.Arg567Trp | |
| NM_001353198.1:c.1699C>T | NP_001340127.1:p.Arg567Trp | |
| NM_001353199.1:c.1510C>T | NP_001340128.1:p.Arg504Trp | |
| NM_001353200.1:c.1339C>T | NP_001340129.1:p.Arg447Trp | |
| NR_148391.1:n.1845C>T | ||
| NR_148392.1:n.2063C>T | ||
| NR_148393.1:n.1984C>T | ||
| NR_148394.1:n.1738C>T | ||
| NR_148395.1:n.2136C>T | ||
| NR_148396.1:n.1770C>T | ||
| NR_148397.1:n.1895C>T | ||
| NR_148398.1:n.1850C>T | ||
| NR_148399.1:n.2376C>T | ||
| NR_148400.1:n.1975C>T | ||
| XM_005272162.3:c.664C>T | XP_005272219.1:p.Arg222Trp | |
| XM_006716932.2:c.1510C>T | XP_006716995.1:p.Arg504Trp | |
| XM_011518140.2:c.1714C>T | XP_011516442.1:p.Arg572Trp | |
| XM_011518141.2:c.1648C>T | XP_011516443.1:p.Arg550Trp | |
| XM_011518142.2:c.1552C>T | XP_011516444.1:p.Arg518Trp | |
| XM_011518143.2:c.1546C>T | XP_011516445.1:p.Arg516Trp | |
| XM_011518145.2:c.1405C>T | XP_011516447.1:p.Arg469Trp | |
| XM_017014205.2:c.664C>T | XP_016869694.1:p.Arg222Trp | |
| XM_024447380.1:c.664C>T | XP_024303148.1:p.Arg222Trp | |
| XM_024447381.1:c.970C>T | XP_024303149.1:p.Arg324Trp | |
| XM_024447382.1:c.664C>T | XP_024303150.1:p.Arg222Trp | |
| XR_001746160.2:n.1965C>T | ||
| XR_001746162.2:n.2170C>T | ||
| XR_001746164.1:n.1887C>T | ||
| XR_001746166.2:n.2182C>T | ||
| NM_001077365.2:c.1795C>T MANE Select | NP_001070833.1:p.Arg599Trp | |
| NM_001077366.2:c.1633C>T | NP_001070834.1:p.Arg545Trp | |
| NM_001136113.2:c.1795C>T | NP_001129585.1:p.Arg599Trp | |
| NM_001136114.2:c.1444C>T | NP_001129586.1:p.Arg482Trp | |
| NM_001353193.2:c.1861C>T | NP_001340122.2:p.Arg621Trp | |
| NM_001353194.2:c.1633C>T | NP_001340123.1:p.Arg545Trp | |
| NM_001353195.2:c.1444C>T | NP_001340124.1:p.Arg482Trp | |
| NM_001353196.2:c.1705C>T | NP_001340125.1:p.Arg569Trp | |
| NM_001353197.2:c.1699C>T | NP_001340126.2:p.Arg567Trp | |
| NM_001353198.2:c.1699C>T | NP_001340127.2:p.Arg567Trp | |
| NM_001353199.2:c.1510C>T | NP_001340128.2:p.Arg504Trp | |
| NM_001353200.2:c.1339C>T | NP_001340129.1:p.Arg447Trp | |
| NM_001374689.1:c.1783C>T | NP_001361618.1:p.Arg595Trp | |
| NM_001374690.1:c.1576C>T | NP_001361619.1:p.Arg526Trp | |
| NM_001374691.1:c.1444C>T | NP_001361620.1:p.Arg482Trp | |
| NM_001374692.1:c.1444C>T | NP_001361621.1:p.Arg482Trp | |
| NM_001374693.1:c.1444C>T | NP_001361622.1:p.Arg482Trp | |
| NM_001374695.1:c.1405C>T | NP_001361624.1:p.Arg469Trp | |
| NM_007171.4:c.1861C>T | NP_009102.4:p.Arg621Trp | |
| NR_148391.2:n.1829C>T | ||
| NR_148392.2:n.2047C>T | ||
| NR_148393.2:n.1968C>T | ||
| NR_148394.2:n.1722C>T | ||
| NR_148395.2:n.2120C>T | ||
| NR_148396.2:n.1754C>T | ||
| NR_148397.2:n.1879C>T | ||
| NR_148398.2:n.1834C>T | ||
| NR_148399.2:n.2360C>T | ||
| NR_148400.2:n.1959C>T |