Linked Data
ClinVar Variation Id:
365285
dbSNP Id:
rs115818625
ExAC:
9:134398518 C / T
gnomAD v2:
9-134398518-C-T
gnomAD v3:
9-131523131-C-T
gnomAD v4:
9-131523131-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.131523131C>T , CM000671.2:g.131523131C>T | GRCh38 |
| NC_000009.11:g.134398518C>T , CM000671.1:g.134398518C>T | GRCh37 |
| NC_000009.10:g.133388339C>T | NCBI36 |
| NG_008896.1:g.25230C>T | |
| NG_008896.2:g.25230C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341012.13:c.*25C>T | ENSP00000343034.7:n.*25C>T | |
| ENST00000404875.7:n.2743C>T | ||
| ENST00000677295.2:c.*2547C>T | ENSP00000504346.2:n.*2547C>T | |
| ENST00000678264.2:c.*2386C>T | ENSP00000503157.2:n.*2386C>T | |
| ENST00000682070.1:n.2513C>T | ||
| ENST00000682639.1:c.200C>T | ||
| ENST00000682813.1:n.2600C>T | ||
| ENST00000683231.1:c.200C>T | ||
| ENST00000683392.1:n.4795C>T | ||
| ENST00000683900.1:n.4103C>T | ||
| ENST00000684062.1:n.2869C>T | ||
| ENST00000684399.1:c.200C>T | ||
| ENST00000684579.1:n.4049C>T | ||
| ENST00000341012.12:c.*25C>T | ENSP00000343034.7:n.*25C>T | |
| ENST00000372220.5:c.*25C>T | ENSP00000361294.5:n.*25C>T | |
| ENST00000372228.9:c.*25C>T | ENSP00000361302.3:n.*25C>T | |
| ENST00000402686.8:c.*25C>T MANE Select | ENSP00000385797.4:n.*25C>T | |
| ENST00000676640.1:c.*25C>T | ENSP00000503281.1:n.*25C>T | |
| ENST00000676803.1:c.*25C>T | ENSP00000503093.1:n.*25C>T | |
| ENST00000676835.1:c.*1418C>T | ENSP00000502911.1:n.*1418C>T | |
| ENST00000677029.1:c.*25C>T | ENSP00000502936.1:n.*25C>T | |
| ENST00000677099.1:c.*1913C>T | ENSP00000504553.1:n.*1913C>T | |
| ENST00000677216.1:c.*25C>T | ENSP00000503772.1:n.*25C>T | |
| ENST00000677295.1:c.*1425C>T | ENSP00000504346.1:n.*1425C>T | |
| ENST00000677444.1:c.2148C>T | ||
| ENST00000677586.1:n.1570C>T | ||
| ENST00000677626.1:c.*25C>T | ENSP00000503552.1:n.*25C>T | |
| ENST00000677853.1:c.*1211C>T | ENSP00000503488.1:n.*1211C>T | |
| ENST00000678303.1:c.*25C>T | ENSP00000503696.1:n.*25C>T | |
| ENST00000678366.1:c.*2452C>T | ENSP00000504353.1:n.*2452C>T | |
| ENST00000678546.1:c.*2148C>T | ENSP00000503062.1:n.*2148C>T | |
| ENST00000678548.1:c.*2342C>T | ENSP00000503934.1:n.*2342C>T | |
| ENST00000678626.1:n.2039C>T | ||
| ENST00000678739.1:c.*2369C>T | ENSP00000503806.1:n.*2369C>T | |
| ENST00000678833.1:c.*1955C>T | ENSP00000503893.1:n.*1955C>T | |
| ENST00000679023.1:c.*25C>T | ENSP00000503718.1:n.*25C>T | |
| ENST00000679076.1:c.1822C>T | ||
| ENST00000679111.1:c.*959C>T | ENSP00000504257.1:n.*959C>T | |
| ENST00000679189.1:c.*25C>T | ENSP00000503356.1:n.*25C>T | |
| ENST00000341012.11:c.*25C>T | ENSP00000343034.7:n.*25C>T | |
| ENST00000372220.4:c.1066C>T | ENSP00000361294.4:n.1066C>T | |
| ENST00000372228.7:c.*25C>T | ENSP00000361302.3:n.*25C>T | |
| ENST00000402686.7:c.*25C>T | ENSP00000385797.3:n.*25C>T | |
| ENST00000404875.6:c.*25C>T | ENSP00000384531.2:n.*25C>T | |
| ENST00000423007.5:c.*25C>T | ENSP00000404119.1:n.*25C>T | |
| ENST00000485278.5:n.2753C>T | ||
| NM_001077365.1:c.*25C>T | NP_001070833.1:n.*25C>T | |
| NM_001077366.1:c.*25C>T | NP_001070834.1:n.*25C>T | |
| NM_001136113.1:c.*25C>T | NP_001129585.1:n.*25C>T | |
| NM_001136114.1:c.*25C>T | NP_001129586.1:n.*25C>T | |
| NM_007171.3:c.*25C>T | NP_009102.3:n.*25C>T | |
| XM_005272156.1:c.*25C>T | XP_005272213.1:n.*25C>T | |
| XM_005272158.1:c.*25C>T | XP_005272215.1:n.*25C>T | |
| XM_005272159.1:c.*25C>T | XP_005272216.1:n.*25C>T | |
| XM_005272162.1:c.*25C>T | XP_005272219.1:n.*25C>T | |
| XM_006716932.1:c.*25C>T | XP_006716995.1:n.*25C>T | |
| XM_011518140.1:c.*25C>T | XP_011516442.1:n.*25C>T | |
| XM_011518141.1:c.*25C>T | XP_011516443.1:n.*25C>T | |
| XM_011518142.1:c.*25C>T | XP_011516444.1:n.*25C>T | |
| XM_011518143.1:c.*25C>T | XP_011516445.1:n.*25C>T | |
| XM_011518145.1:c.*25C>T | XP_011516447.1:n.*25C>T | |
| XM_011518147.1:c.*25C>T | XP_011516449.1:n.*25C>T | |
| XR_929703.1:n.2445C>T | ||
| NM_001353193.1:c.*25C>T | NP_001340122.1:n.*25C>T | |
| NM_001353194.1:c.*25C>T | NP_001340123.1:n.*25C>T | |
| NM_001353195.1:c.*25C>T | NP_001340124.1:n.*25C>T | |
| NM_001353196.1:c.*25C>T | NP_001340125.1:n.*25C>T | |
| NM_001353197.1:c.*25C>T | NP_001340126.1:n.*25C>T | |
| NM_001353198.1:c.*25C>T | NP_001340127.1:n.*25C>T | |
| NM_001353199.1:c.*25C>T | NP_001340128.1:n.*25C>T | |
| NM_001353200.1:c.*25C>T | NP_001340129.1:n.*25C>T | |
| NR_148391.1:n.2253C>T | ||
| NR_148392.1:n.2471C>T | ||
| NR_148393.1:n.2392C>T | ||
| NR_148394.1:n.2146C>T | ||
| NR_148395.1:n.2544C>T | ||
| NR_148396.1:n.2178C>T | ||
| NR_148397.1:n.2303C>T | ||
| NR_148398.1:n.2258C>T | ||
| NR_148399.1:n.2784C>T | ||
| NR_148400.1:n.2383C>T | ||
| XM_005272162.3:c.*25C>T | XP_005272219.1:n.*25C>T | |
| XM_006716932.2:c.*25C>T | XP_006716995.1:n.*25C>T | |
| XM_011518140.2:c.*25C>T | XP_011516442.1:n.*25C>T | |
| XM_011518141.2:c.*25C>T | XP_011516443.1:n.*25C>T | |
| XM_011518142.2:c.*25C>T | XP_011516444.1:n.*25C>T | |
| XM_011518143.2:c.*25C>T | XP_011516445.1:n.*25C>T | |
| XM_011518145.2:c.*25C>T | XP_011516447.1:n.*25C>T | |
| XM_017014205.2:c.*25C>T | XP_016869694.1:n.*25C>T | |
| XM_024447380.1:c.*25C>T | XP_024303148.1:n.*25C>T | |
| XM_024447381.1:c.*25C>T | XP_024303149.1:n.*25C>T | |
| XM_024447382.1:c.*25C>T | XP_024303150.1:n.*25C>T | |
| XR_001746160.2:n.2373C>T | ||
| XR_001746162.2:n.2578C>T | ||
| XR_001746164.1:n.2295C>T | ||
| XR_001746166.2:n.2590C>T | ||
| NM_001077365.2:c.*25C>T MANE Select | NP_001070833.1:n.*25C>T | |
| NM_001077366.2:c.*25C>T | NP_001070834.1:n.*25C>T | |
| NM_001136113.2:c.*25C>T | NP_001129585.1:n.*25C>T | |
| NM_001136114.2:c.*25C>T | NP_001129586.1:n.*25C>T | |
| NM_001353193.2:c.*25C>T | NP_001340122.2:n.*25C>T | |
| NM_001353194.2:c.*25C>T | NP_001340123.1:n.*25C>T | |
| NM_001353195.2:c.*25C>T | NP_001340124.1:n.*25C>T | |
| NM_001353196.2:c.*25C>T | NP_001340125.1:n.*25C>T | |
| NM_001353197.2:c.*25C>T | NP_001340126.2:n.*25C>T | |
| NM_001353198.2:c.*25C>T | NP_001340127.2:n.*25C>T | |
| NM_001353199.2:c.*25C>T | NP_001340128.2:n.*25C>T | |
| NM_001353200.2:c.*25C>T | NP_001340129.1:n.*25C>T | |
| NM_001374689.1:c.*25C>T | NP_001361618.1:n.*25C>T | |
| NM_001374690.1:c.*25C>T | NP_001361619.1:n.*25C>T | |
| NM_001374691.1:c.*25C>T | NP_001361620.1:n.*25C>T | |
| NM_001374692.1:c.*25C>T | NP_001361621.1:n.*25C>T | |
| NM_001374693.1:c.*25C>T | NP_001361622.1:n.*25C>T | |
| NM_001374695.1:c.*25C>T | NP_001361624.1:n.*25C>T | |
| NM_007171.4:c.*25C>T | NP_009102.4:n.*25C>T | |
| NR_148391.2:n.2237C>T | ||
| NR_148392.2:n.2455C>T | ||
| NR_148393.2:n.2376C>T | ||
| NR_148394.2:n.2130C>T | ||
| NR_148395.2:n.2528C>T | ||
| NR_148396.2:n.2162C>T | ||
| NR_148397.2:n.2287C>T | ||
| NR_148398.2:n.2242C>T | ||
| NR_148399.2:n.2768C>T | ||
| NR_148400.2:n.2367C>T |