Linked Data
ClinVar Variation Id:
194859
dbSNP Id:
rs794727208
gnomAD v2:
9-134396832-C-T
gnomAD v3:
9-131521445-C-T
gnomAD v4:
9-131521445-C-T
PubMed:
PMID:23891399
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.131521445C>T , CM000671.2:g.131521445C>T | GRCh38 |
| NC_000009.11:g.134396832C>T , CM000671.1:g.134396832C>T | GRCh37 |
| NC_000009.10:g.133386653C>T | NCBI36 |
| NG_008896.1:g.23544C>T | |
| NG_008896.2:g.23544C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341012.13:c.1636C>T | ENSP00000343034.7:p.Arg546Ter | |
| ENST00000404875.7:n.2338C>T | ||
| ENST00000423007.6:c.1855C>T | ENSP00000404119.2:p.Arg619Ter | |
| ENST00000677295.2:c.*2142C>T | ENSP00000504346.2:n.*2142C>T | |
| ENST00000678264.2:c.*1981C>T | ENSP00000503157.2:n.*1981C>T | |
| ENST00000682070.1:n.2263C>T | ||
| ENST00000682813.1:n.2202C>T | ||
| ENST00000683392.1:n.4545C>T | ||
| ENST00000683712.1:n.2203C>T | ||
| ENST00000683900.1:n.3698C>T | ||
| ENST00000684062.1:n.2464C>T | ||
| ENST00000684579.1:n.3644C>T | ||
| ENST00000684679.1:n.1025C>T | ||
| ENST00000341012.12:c.1636C>T | ENSP00000343034.7:p.Arg546Ter | |
| ENST00000372220.5:c.667C>T | ENSP00000361294.5:p.Arg223Ter | |
| ENST00000372228.9:c.1864C>T | ENSP00000361302.3:p.Arg622Ter | |
| ENST00000402686.8:c.1798C>T MANE Select | ENSP00000385797.4:p.Arg600Ter | |
| ENST00000676640.1:c.1798C>T | ENSP00000503281.1:p.Arg600Ter | |
| ENST00000676803.1:c.859C>T | ENSP00000503093.1:p.Arg287Ter | |
| ENST00000676835.1:c.*1013C>T | ENSP00000502911.1:n.*1013C>T | |
| ENST00000677029.1:c.1342C>T | ENSP00000502936.1:p.Arg448Ter | |
| ENST00000677099.1:c.*1508C>T | ENSP00000504553.1:n.*1508C>T | |
| ENST00000677216.1:c.1447C>T | ENSP00000503772.1:p.Arg483Ter | |
| ENST00000677221.1:n.823C>T | ||
| ENST00000677295.1:c.*1175C>T | ENSP00000504346.1:n.*1175C>T | |
| ENST00000677444.1:c.1743C>T | ||
| ENST00000677586.1:n.1165C>T | ||
| ENST00000677626.1:c.1447C>T | ENSP00000503552.1:p.Arg483Ter | |
| ENST00000677853.1:c.*806C>T | ENSP00000503488.1:n.*806C>T | |
| ENST00000678202.1:n.957C>T | ||
| ENST00000678264.1:c.*1175C>T | ENSP00000503157.1:n.*1175C>T | |
| ENST00000678303.1:c.1708C>T | ENSP00000503696.1:p.Arg570Ter | |
| ENST00000678366.1:c.*2047C>T | ENSP00000504353.1:n.*2047C>T | |
| ENST00000678546.1:c.*1743C>T | ENSP00000503062.1:n.*1743C>T | |
| ENST00000678548.1:c.*1870C>T | ENSP00000503934.1:n.*1870C>T | |
| ENST00000678626.1:n.1634C>T | ||
| ENST00000678739.1:c.*2119C>T | ENSP00000503806.1:n.*2119C>T | |
| ENST00000678833.1:c.*1550C>T | ENSP00000503893.1:n.*1550C>T | |
| ENST00000679023.1:c.1636C>T | ENSP00000503718.1:p.Arg546Ter | |
| ENST00000679076.1:c.1417C>T | ||
| ENST00000679111.1:c.*554C>T | ENSP00000504257.1:n.*554C>T | |
| ENST00000679189.1:c.1447C>T | ENSP00000503356.1:p.Arg483Ter | |
| ENST00000341012.11:c.1636C>T | ENSP00000343034.7:p.Arg546Ter | |
| ENST00000372220.4:c.661C>T | ENSP00000361294.4:p.Arg221Ter | |
| ENST00000372228.7:c.1864C>T | ENSP00000361302.3:p.Arg622Ter | |
| ENST00000402686.7:c.1798C>T | ENSP00000385797.3:p.Arg600Ter | |
| ENST00000404875.6:c.1447C>T | ENSP00000384531.2:p.Arg483Ter | |
| ENST00000423007.5:c.1798C>T | ENSP00000404119.1:p.Arg600Ter | |
| ENST00000485278.5:n.2348C>T | ||
| ENST00000494883.1:n.341C>T | ||
| NM_001077365.1:c.1798C>T | NP_001070833.1:p.Arg600Ter | |
| NM_001077366.1:c.1636C>T | NP_001070834.1:p.Arg546Ter | |
| NM_001136113.1:c.1798C>T | NP_001129585.1:p.Arg600Ter | |
| NM_001136114.1:c.1447C>T | NP_001129586.1:p.Arg483Ter | |
| NM_007171.3:c.1864C>T | NP_009102.3:p.Arg622Ter | |
| XM_005272156.1:c.1864C>T | XP_005272213.1:p.Arg622Ter | |
| XM_005272158.1:c.1702C>T | XP_005272215.1:p.Arg568Ter | |
| XM_005272159.1:c.1513C>T | XP_005272216.1:p.Arg505Ter | |
| XM_005272162.1:c.667C>T | XP_005272219.1:p.Arg223Ter | |
| XM_006716932.1:c.1513C>T | XP_006716995.1:p.Arg505Ter | |
| XM_011518140.1:c.1717C>T | XP_011516442.1:p.Arg573Ter | |
| XM_011518141.1:c.1651C>T | XP_011516443.1:p.Arg551Ter | |
| XM_011518142.1:c.1555C>T | XP_011516444.1:p.Arg519Ter | |
| XM_011518143.1:c.1549C>T | XP_011516445.1:p.Arg517Ter | |
| XM_011518145.1:c.1408C>T | XP_011516447.1:p.Arg470Ter | |
| XM_011518147.1:c.736C>T | XP_011516449.1:p.Arg246Ter | |
| XR_929703.1:n.2040C>T | ||
| NM_001353193.1:c.1864C>T | NP_001340122.1:p.Arg622Ter | |
| NM_001353194.1:c.1636C>T | NP_001340123.1:p.Arg546Ter | |
| NM_001353195.1:c.1447C>T | NP_001340124.1:p.Arg483Ter | |
| NM_001353196.1:c.1708C>T | NP_001340125.1:p.Arg570Ter | |
| NM_001353197.1:c.1702C>T | NP_001340126.1:p.Arg568Ter | |
| NM_001353198.1:c.1702C>T | NP_001340127.1:p.Arg568Ter | |
| NM_001353199.1:c.1513C>T | NP_001340128.1:p.Arg505Ter | |
| NM_001353200.1:c.1342C>T | NP_001340129.1:p.Arg448Ter | |
| NR_148391.1:n.1848C>T | ||
| NR_148392.1:n.2066C>T | ||
| NR_148393.1:n.1987C>T | ||
| NR_148394.1:n.1741C>T | ||
| NR_148395.1:n.2139C>T | ||
| NR_148396.1:n.1773C>T | ||
| NR_148397.1:n.1898C>T | ||
| NR_148398.1:n.1853C>T | ||
| NR_148399.1:n.2379C>T | ||
| NR_148400.1:n.1978C>T | ||
| XM_005272162.3:c.667C>T | XP_005272219.1:p.Arg223Ter | |
| XM_006716932.2:c.1513C>T | XP_006716995.1:p.Arg505Ter | |
| XM_011518140.2:c.1717C>T | XP_011516442.1:p.Arg573Ter | |
| XM_011518141.2:c.1651C>T | XP_011516443.1:p.Arg551Ter | |
| XM_011518142.2:c.1555C>T | XP_011516444.1:p.Arg519Ter | |
| XM_011518143.2:c.1549C>T | XP_011516445.1:p.Arg517Ter | |
| XM_011518145.2:c.1408C>T | XP_011516447.1:p.Arg470Ter | |
| XM_017014205.2:c.667C>T | XP_016869694.1:p.Arg223Ter | |
| XM_024447380.1:c.667C>T | XP_024303148.1:p.Arg223Ter | |
| XM_024447381.1:c.973C>T | XP_024303149.1:p.Arg325Ter | |
| XM_024447382.1:c.667C>T | XP_024303150.1:p.Arg223Ter | |
| XR_001746160.2:n.1968C>T | ||
| XR_001746162.2:n.2173C>T | ||
| XR_001746164.1:n.1890C>T | ||
| XR_001746166.2:n.2185C>T | ||
| NM_001077365.2:c.1798C>T MANE Select | NP_001070833.1:p.Arg600Ter | |
| NM_001077366.2:c.1636C>T | NP_001070834.1:p.Arg546Ter | |
| NM_001136113.2:c.1798C>T | NP_001129585.1:p.Arg600Ter | |
| NM_001136114.2:c.1447C>T | NP_001129586.1:p.Arg483Ter | |
| NM_001353193.2:c.1864C>T | NP_001340122.2:p.Arg622Ter | |
| NM_001353194.2:c.1636C>T | NP_001340123.1:p.Arg546Ter | |
| NM_001353195.2:c.1447C>T | NP_001340124.1:p.Arg483Ter | |
| NM_001353196.2:c.1708C>T | NP_001340125.1:p.Arg570Ter | |
| NM_001353197.2:c.1702C>T | NP_001340126.2:p.Arg568Ter | |
| NM_001353198.2:c.1702C>T | NP_001340127.2:p.Arg568Ter | |
| NM_001353199.2:c.1513C>T | NP_001340128.2:p.Arg505Ter | |
| NM_001353200.2:c.1342C>T | NP_001340129.1:p.Arg448Ter | |
| NM_001374689.1:c.1786C>T | NP_001361618.1:p.Arg596Ter | |
| NM_001374690.1:c.1579C>T | NP_001361619.1:p.Arg527Ter | |
| NM_001374691.1:c.1447C>T | NP_001361620.1:p.Arg483Ter | |
| NM_001374692.1:c.1447C>T | NP_001361621.1:p.Arg483Ter | |
| NM_001374693.1:c.1447C>T | NP_001361622.1:p.Arg483Ter | |
| NM_001374695.1:c.1408C>T | NP_001361624.1:p.Arg470Ter | |
| NM_007171.4:c.1864C>T | NP_009102.4:p.Arg622Ter | |
| NR_148391.2:n.1832C>T | ||
| NR_148392.2:n.2050C>T | ||
| NR_148393.2:n.1971C>T | ||
| NR_148394.2:n.1725C>T | ||
| NR_148395.2:n.2123C>T | ||
| NR_148396.2:n.1757C>T | ||
| NR_148397.2:n.1882C>T | ||
| NR_148398.2:n.1837C>T | ||
| NR_148399.2:n.2363C>T | ||
| NR_148400.2:n.1962C>T |