Linked Data
ClinVar Variation Id:
497189
dbSNP Id:
rs200969468
ExAC:
9:134395553 T / C
gnomAD v2:
9-134395553-T-C
gnomAD v3:
9-131520166-T-C
gnomAD v4:
9-131520166-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.131520166T>C , CM000671.2:g.131520166T>C | GRCh38 |
| NC_000009.11:g.134395553T>C , CM000671.1:g.134395553T>C | GRCh37 |
| NC_000009.10:g.133385374T>C | NCBI36 |
| NG_008896.1:g.22265T>C | |
| NG_008896.2:g.22265T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341012.13:c.1509T>C | ENSP00000343034.7:p.Ile503= | |
| ENST00000404875.7:n.2211T>C | ||
| ENST00000423007.6:c.1728T>C | ENSP00000404119.2:p.Ile576= | |
| ENST00000677295.2:c.*2015T>C | ENSP00000504346.2:n.*2015T>C | |
| ENST00000678264.2:c.*1854T>C | ENSP00000503157.2:n.*1854T>C | |
| ENST00000682070.1:n.2136T>C | ||
| ENST00000682813.1:n.2075T>C | ||
| ENST00000683392.1:n.4418T>C | ||
| ENST00000683712.1:n.2076T>C | ||
| ENST00000683900.1:n.3571T>C | ||
| ENST00000684062.1:n.2337T>C | ||
| ENST00000684579.1:n.3517T>C | ||
| ENST00000684679.1:n.898T>C | ||
| ENST00000341012.12:c.1509T>C | ENSP00000343034.7:p.Ile503= | |
| ENST00000372220.5:c.540T>C | ENSP00000361294.5:p.Ile180= | |
| ENST00000372228.9:c.1737T>C | ENSP00000361302.3:p.Ile579= | |
| ENST00000402686.8:c.1671T>C MANE Select | ENSP00000385797.4:p.Ile557= | |
| ENST00000676640.1:c.1671T>C | ENSP00000503281.1:p.Ile557= | |
| ENST00000676803.1:c.759+680T>C | ENSP00000503093.1:n.759+680T>C | |
| ENST00000676835.1:c.*886T>C | ENSP00000502911.1:n.*886T>C | |
| ENST00000677029.1:c.1215T>C | ENSP00000502936.1:p.Ile405= | |
| ENST00000677099.1:c.*1381T>C | ENSP00000504553.1:n.*1381T>C | |
| ENST00000677216.1:c.1320T>C | ENSP00000503772.1:p.Ile440= | |
| ENST00000677221.1:n.696T>C | ||
| ENST00000677295.1:c.*1048T>C | ENSP00000504346.1:n.*1048T>C | |
| ENST00000677444.1:c.1616T>C | ||
| ENST00000677586.1:n.1065+680T>C | ||
| ENST00000677626.1:c.1320T>C | ENSP00000503552.1:p.Ile440= | |
| ENST00000677677.1:n.1631T>C | ||
| ENST00000677853.1:c.*679T>C | ENSP00000503488.1:n.*679T>C | |
| ENST00000678202.1:n.830T>C | ||
| ENST00000678264.1:c.*1048T>C | ENSP00000503157.1:n.*1048T>C | |
| ENST00000678303.1:c.1581T>C | ENSP00000503696.1:p.Ile527= | |
| ENST00000678366.1:c.*1920T>C | ENSP00000504353.1:n.*1920T>C | |
| ENST00000678546.1:c.*1616T>C | ENSP00000503062.1:n.*1616T>C | |
| ENST00000678548.1:c.*1743T>C | ENSP00000503934.1:n.*1743T>C | |
| ENST00000678626.1:n.1507T>C | ||
| ENST00000678739.1:c.*1992T>C | ENSP00000503806.1:n.*1992T>C | |
| ENST00000678833.1:c.*1423T>C | ENSP00000503893.1:n.*1423T>C | |
| ENST00000679023.1:c.1509T>C | ENSP00000503718.1:p.Ile503= | |
| ENST00000679076.1:c.1290T>C | ||
| ENST00000679111.1:c.*427T>C | ENSP00000504257.1:n.*427T>C | |
| ENST00000679189.1:c.1320T>C | ENSP00000503356.1:p.Ile440= | |
| ENST00000341012.11:c.1509T>C | ENSP00000343034.7:p.Ile503= | |
| ENST00000372220.4:c.534T>C | ENSP00000361294.4:p.Ile178= | |
| ENST00000372228.7:c.1737T>C | ENSP00000361302.3:p.Ile579= | |
| ENST00000402686.7:c.1671T>C | ENSP00000385797.3:p.Ile557= | |
| ENST00000404875.6:c.1320T>C | ENSP00000384531.2:p.Ile440= | |
| ENST00000423007.5:c.1671T>C | ENSP00000404119.1:p.Ile557= | |
| ENST00000467848.1:n.375T>C | ||
| ENST00000485278.5:n.2221T>C | ||
| NM_001077365.1:c.1671T>C | NP_001070833.1:p.Ile557= | |
| NM_001077366.1:c.1509T>C | NP_001070834.1:p.Ile503= | |
| NM_001136113.1:c.1671T>C | NP_001129585.1:p.Ile557= | |
| NM_001136114.1:c.1320T>C | NP_001129586.1:p.Ile440= | |
| NM_007171.3:c.1737T>C | NP_009102.3:p.Ile579= | |
| XM_005272156.1:c.1737T>C | XP_005272213.1:p.Ile579= | |
| XM_005272158.1:c.1575T>C | XP_005272215.1:p.Ile525= | |
| XM_005272159.1:c.1386T>C | XP_005272216.1:p.Ile462= | |
| XM_005272162.1:c.540T>C | XP_005272219.1:p.Ile180= | |
| XM_006716932.1:c.1386T>C | XP_006716995.1:p.Ile462= | |
| XM_011518140.1:c.1590T>C | XP_011516442.1:p.Ile530= | |
| XM_011518141.1:c.1524T>C | XP_011516443.1:p.Ile508= | |
| XM_011518142.1:c.1428T>C | XP_011516444.1:p.Ile476= | |
| XM_011518143.1:c.1422T>C | XP_011516445.1:p.Ile474= | |
| XM_011518145.1:c.1281T>C | XP_011516447.1:p.Ile427= | |
| XM_011518147.1:c.609T>C | XP_011516449.1:p.Ile203= | |
| XR_929703.1:n.1913T>C | ||
| NM_001353193.1:c.1737T>C | NP_001340122.1:p.Ile579= | |
| NM_001353194.1:c.1509T>C | NP_001340123.1:p.Ile503= | |
| NM_001353195.1:c.1320T>C | NP_001340124.1:p.Ile440= | |
| NM_001353196.1:c.1581T>C | NP_001340125.1:p.Ile527= | |
| NM_001353197.1:c.1575T>C | NP_001340126.1:p.Ile525= | |
| NM_001353198.1:c.1575T>C | NP_001340127.1:p.Ile525= | |
| NM_001353199.1:c.1386T>C | NP_001340128.1:p.Ile462= | |
| NM_001353200.1:c.1215T>C | NP_001340129.1:p.Ile405= | |
| NR_148391.1:n.1721T>C | ||
| NR_148392.1:n.1939T>C | ||
| NR_148393.1:n.1860T>C | ||
| NR_148394.1:n.1614T>C | ||
| NR_148395.1:n.2012T>C | ||
| NR_148396.1:n.1646T>C | ||
| NR_148397.1:n.1771T>C | ||
| NR_148398.1:n.1726T>C | ||
| NR_148399.1:n.2252T>C | ||
| NR_148400.1:n.1851T>C | ||
| XM_005272162.3:c.540T>C | XP_005272219.1:p.Ile180= | |
| XM_006716932.2:c.1386T>C | XP_006716995.1:p.Ile462= | |
| XM_011518140.2:c.1590T>C | XP_011516442.1:p.Ile530= | |
| XM_011518141.2:c.1524T>C | XP_011516443.1:p.Ile508= | |
| XM_011518142.2:c.1428T>C | XP_011516444.1:p.Ile476= | |
| XM_011518143.2:c.1422T>C | XP_011516445.1:p.Ile474= | |
| XM_011518145.2:c.1281T>C | XP_011516447.1:p.Ile427= | |
| XM_017014205.2:c.540T>C | XP_016869694.1:p.Ile180= | |
| XM_024447380.1:c.540T>C | XP_024303148.1:p.Ile180= | |
| XM_024447381.1:c.846T>C | XP_024303149.1:p.Ile282= | |
| XM_024447382.1:c.540T>C | XP_024303150.1:p.Ile180= | |
| XR_001746160.2:n.1841T>C | ||
| XR_001746162.2:n.2046T>C | ||
| XR_001746164.1:n.1763T>C | ||
| XR_001746166.2:n.2058T>C | ||
| NM_001077365.2:c.1671T>C MANE Select | NP_001070833.1:p.Ile557= | |
| NM_001077366.2:c.1509T>C | NP_001070834.1:p.Ile503= | |
| NM_001136113.2:c.1671T>C | NP_001129585.1:p.Ile557= | |
| NM_001136114.2:c.1320T>C | NP_001129586.1:p.Ile440= | |
| NM_001353193.2:c.1737T>C | NP_001340122.2:p.Ile579= | |
| NM_001353194.2:c.1509T>C | NP_001340123.1:p.Ile503= | |
| NM_001353195.2:c.1320T>C | NP_001340124.1:p.Ile440= | |
| NM_001353196.2:c.1581T>C | NP_001340125.1:p.Ile527= | |
| NM_001353197.2:c.1575T>C | NP_001340126.2:p.Ile525= | |
| NM_001353198.2:c.1575T>C | NP_001340127.2:p.Ile525= | |
| NM_001353199.2:c.1386T>C | NP_001340128.2:p.Ile462= | |
| NM_001353200.2:c.1215T>C | NP_001340129.1:p.Ile405= | |
| NM_001374689.1:c.1659T>C | NP_001361618.1:p.Ile553= | |
| NM_001374690.1:c.1452T>C | NP_001361619.1:p.Ile484= | |
| NM_001374691.1:c.1320T>C | NP_001361620.1:p.Ile440= | |
| NM_001374692.1:c.1320T>C | NP_001361621.1:p.Ile440= | |
| NM_001374693.1:c.1320T>C | NP_001361622.1:p.Ile440= | |
| NM_001374695.1:c.1281T>C | NP_001361624.1:p.Ile427= | |
| NM_007171.4:c.1737T>C | NP_009102.4:p.Ile579= | |
| NR_148391.2:n.1705T>C | ||
| NR_148392.2:n.1923T>C | ||
| NR_148393.2:n.1844T>C | ||
| NR_148394.2:n.1598T>C | ||
| NR_148395.2:n.1996T>C | ||
| NR_148396.2:n.1630T>C | ||
| NR_148397.2:n.1755T>C | ||
| NR_148398.2:n.1710T>C | ||
| NR_148399.2:n.2236T>C | ||
| NR_148400.2:n.1835T>C |