Linked Data
ClinVar Variation Id:
538726
dbSNP Id:
rs771390000
ExAC:
9:134382900 C / T
gnomAD v2:
9-134382900-C-T
gnomAD v3:
9-131507513-C-T
gnomAD v4:
9-131507513-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.131507513C>T , CM000671.2:g.131507513C>T | GRCh38 |
| NC_000009.11:g.134382900C>T , CM000671.1:g.134382900C>T | GRCh37 |
| NC_000009.10:g.133372721C>T | NCBI36 |
| NG_008896.1:g.9612C>T | |
| NG_008896.2:g.9612C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341012.13:c.264C>T | ENSP00000343034.7:p.Ile88= | |
| ENST00000404875.7:n.535C>T | ||
| ENST00000423007.6:c.417C>T | ENSP00000404119.2:p.Ile139= | |
| ENST00000677295.2:c.*502C>T | ENSP00000504346.2:n.*502C>T | |
| ENST00000678264.2:c.*609C>T | ENSP00000503157.2:n.*609C>T | |
| ENST00000678942.2:c.123-1398C>T | ENSP00000504690.2:n.123-1398C>T | |
| ENST00000682070.1:n.623C>T | ||
| ENST00000682813.1:n.428C>T | ||
| ENST00000683229.1:c.-29-1398C>T | ENSP00000506964.1:n.-29-1398C>T | |
| ENST00000683392.1:n.1514C>T | ||
| ENST00000683712.1:n.563C>T | ||
| ENST00000683900.1:n.1602C>T | ||
| ENST00000684579.1:n.608C>T | ||
| ENST00000341012.12:c.264C>T | ENSP00000343034.7:p.Ile88= | |
| ENST00000372220.5:c.-146+4440C>T | ENSP00000361294.5:n.-146+4440C>T | |
| ENST00000372228.9:c.426C>T | ENSP00000361302.3:p.Ile142= | |
| ENST00000402686.8:c.426C>T MANE Select | ENSP00000385797.4:p.Ile142= | |
| ENST00000415075.6:c.*136C>T | ENSP00000405149.2:n.*136C>T | |
| ENST00000430619.2:c.-30+1060C>T | ENSP00000402083.2:n.-30+1060C>T | |
| ENST00000676640.1:c.426C>T | ENSP00000503281.1:p.Ile142= | |
| ENST00000676803.1:c.-126-2747C>T | ENSP00000503093.1:n.-126-2747C>T | |
| ENST00000676835.1:c.75C>T | ENSP00000502911.1:p.Ile25= | |
| ENST00000676915.1:c.280+1060C>T | ENSP00000504628.1:n.280+1060C>T | |
| ENST00000677028.1:c.264C>T | ENSP00000503896.1:p.Ile88= | |
| ENST00000677029.1:c.-30+1060C>T | ENSP00000502936.1:n.-30+1060C>T | |
| ENST00000677099.1:c.*136C>T | ENSP00000504553.1:n.*136C>T | |
| ENST00000677167.1:c.426C>T | ENSP00000503307.1:p.Ile142= | |
| ENST00000677216.1:c.75C>T | ENSP00000503772.1:p.Ile25= | |
| ENST00000677293.1:c.-29-2844C>T | ENSP00000504278.1:n.-29-2844C>T | |
| ENST00000677295.1:c.264C>T | ENSP00000504346.1:p.Ile88= | |
| ENST00000677586.1:n.180+1060C>T | ||
| ENST00000677626.1:c.264C>T | ENSP00000503552.1:p.Ile88= | |
| ENST00000677677.1:n.386C>T | ||
| ENST00000677729.1:c.426C>T | ENSP00000503581.1:p.Ile142= | |
| ENST00000677853.1:c.264C>T | ENSP00000503488.1:p.Ile88= | |
| ENST00000678264.1:c.426C>T | ENSP00000503157.1:p.Ile142= | |
| ENST00000678303.1:c.336C>T | ENSP00000503696.1:p.Ile112= | |
| ENST00000678366.1:c.*609C>T | ENSP00000504353.1:n.*609C>T | |
| ENST00000678546.1:c.264C>T | ENSP00000503062.1:p.Ile88= | |
| ENST00000678548.1:c.*136C>T | ENSP00000503934.1:n.*136C>T | |
| ENST00000678626.1:n.119+1060C>T | ||
| ENST00000678707.1:n.177+1060C>T | ||
| ENST00000678739.1:c.*484C>T | ENSP00000503806.1:n.*484C>T | |
| ENST00000678785.1:c.264C>T | ENSP00000504231.1:p.Ile88= | |
| ENST00000678833.1:c.426C>T | ENSP00000503893.1:p.Ile142= | |
| ENST00000679023.1:c.264C>T | ENSP00000503718.1:p.Ile88= | |
| ENST00000679076.1:c.137C>T | ||
| ENST00000679111.1:c.426C>T | ENSP00000504257.1:p.Ile142= | |
| ENST00000679189.1:c.75C>T | ENSP00000503356.1:p.Ile25= | |
| ENST00000341012.11:c.264C>T | ENSP00000343034.7:p.Ile88= | |
| ENST00000372228.7:c.426C>T | ENSP00000361302.3:p.Ile142= | |
| ENST00000402686.7:c.426C>T | ENSP00000385797.3:p.Ile142= | |
| ENST00000404875.6:c.75C>T | ENSP00000384531.2:p.Ile25= | |
| ENST00000415075.5:c.75C>T | ENSP00000405149.1:p.Ile25= | |
| ENST00000418774.5:c.426C>T | ENSP00000390737.1:p.Ile142= | |
| ENST00000423007.5:c.426C>T | ENSP00000404119.1:p.Ile142= | |
| ENST00000430619.1:c.75C>T | ENSP00000402083.1:p.Ile25= | |
| ENST00000441334.5:c.75C>T | ENSP00000395060.1:p.Ile25= | |
| ENST00000448212.5:c.264C>T | ENSP00000403736.1:p.Ile88= | |
| NM_001077365.1:c.426C>T | NP_001070833.1:p.Ile142= | |
| NM_001077366.1:c.264C>T | NP_001070834.1:p.Ile88= | |
| NM_001136113.1:c.426C>T | NP_001129585.1:p.Ile142= | |
| NM_001136114.1:c.75C>T | NP_001129586.1:p.Ile25= | |
| NM_007171.3:c.426C>T | NP_009102.3:p.Ile142= | |
| XM_005272156.1:c.426C>T | XP_005272213.1:p.Ile142= | |
| XM_005272158.1:c.264C>T | XP_005272215.1:p.Ile88= | |
| XM_005272159.1:c.75C>T | XP_005272216.1:p.Ile25= | |
| XM_005272162.1:c.-974C>T | XP_005272219.1:n.-974C>T | |
| XM_006716932.1:c.75C>T | XP_006716995.1:p.Ile25= | |
| XM_011518140.1:c.280+1060C>T | XP_011516442.1:n.280+1060C>T | |
| XM_011518141.1:c.280+1060C>T | XP_011516443.1:n.280+1060C>T | |
| XM_011518142.1:c.118+1060C>T | XP_011516444.1:n.118+1060C>T | |
| XM_011518143.1:c.173+1060C>T | XP_011516445.1:n.173+1060C>T | |
| XM_011518144.1:c.426C>T | XP_011516446.1:p.Ile142= | |
| XM_011518145.1:c.-30+1060C>T | XP_011516447.1:n.-30+1060C>T | |
| XM_011518146.1:c.173+1060C>T | XP_011516448.1:n.173+1060C>T | |
| XR_929703.1:n.602C>T | ||
| NM_001353193.1:c.426C>T | NP_001340122.1:p.Ile142= | |
| NM_001353194.1:c.264C>T | NP_001340123.1:p.Ile88= | |
| NM_001353195.1:c.75C>T | NP_001340124.1:p.Ile25= | |
| NM_001353196.1:c.336C>T | NP_001340125.1:p.Ile112= | |
| NM_001353197.1:c.264C>T | NP_001340126.1:p.Ile88= | |
| NM_001353198.1:c.264C>T | NP_001340127.1:p.Ile88= | |
| NM_001353199.1:c.75C>T | NP_001340128.1:p.Ile25= | |
| NM_001353200.1:c.-30+1060C>T | NP_001340129.1:n.-30+1060C>T | |
| NR_148391.1:n.476C>T | ||
| NR_148392.1:n.628C>T | ||
| NR_148393.1:n.476C>T | ||
| NR_148394.1:n.476C>T | ||
| NR_148395.1:n.628C>T | ||
| NR_148396.1:n.369C>T | ||
| NR_148397.1:n.521C>T | ||
| NR_148398.1:n.476C>T | ||
| NR_148399.1:n.868C>T | ||
| NR_148400.1:n.463+1060C>T | ||
| XM_005272162.3:c.-974C>T | XP_005272219.1:n.-974C>T | |
| XM_006716932.2:c.75C>T | XP_006716995.1:p.Ile25= | |
| XM_011518140.2:c.280+1060C>T | XP_011516442.1:n.280+1060C>T | |
| XM_011518141.2:c.280+1060C>T | XP_011516443.1:n.280+1060C>T | |
| XM_011518142.2:c.118+1060C>T | XP_011516444.1:n.118+1060C>T | |
| XM_011518143.2:c.173+1060C>T | XP_011516445.1:n.173+1060C>T | |
| XM_011518145.2:c.-30+1060C>T | XP_011516447.1:n.-30+1060C>T | |
| XM_017014205.2:c.-777C>T | XP_016869694.1:n.-777C>T | |
| XM_024447380.1:c.-710+1060C>T | XP_024303148.1:n.-710+1060C>T | |
| XM_024447381.1:c.-663C>T | XP_024303149.1:n.-663C>T | |
| XM_024447382.1:c.-2370C>T | XP_024303150.1:n.-2370C>T | |
| XR_001746160.2:n.596C>T | ||
| XR_001746162.2:n.596C>T | ||
| XR_001746164.1:n.375+1060C>T | ||
| XR_001746166.2:n.550C>T | ||
| NM_001077365.2:c.426C>T MANE Select | NP_001070833.1:p.Ile142= | |
| NM_001077366.2:c.264C>T | NP_001070834.1:p.Ile88= | |
| NM_001136113.2:c.426C>T | NP_001129585.1:p.Ile142= | |
| NM_001136114.2:c.75C>T | NP_001129586.1:p.Ile25= | |
| NM_001353193.2:c.426C>T | NP_001340122.2:p.Ile142= | |
| NM_001353194.2:c.264C>T | NP_001340123.1:p.Ile88= | |
| NM_001353195.2:c.75C>T | NP_001340124.1:p.Ile25= | |
| NM_001353196.2:c.336C>T | NP_001340125.1:p.Ile112= | |
| NM_001353197.2:c.264C>T | NP_001340126.2:p.Ile88= | |
| NM_001353198.2:c.264C>T | NP_001340127.2:p.Ile88= | |
| NM_001353199.2:c.75C>T | NP_001340128.2:p.Ile25= | |
| NM_001353200.2:c.-30+1060C>T | NP_001340129.1:n.-30+1060C>T | |
| NM_001374689.1:c.264C>T | NP_001361618.1:p.Ile88= | |
| NM_001374690.1:c.426C>T | NP_001361619.1:p.Ile142= | |
| NM_001374691.1:c.75C>T | NP_001361620.1:p.Ile25= | |
| NM_001374692.1:c.75C>T | NP_001361621.1:p.Ile25= | |
| NM_001374693.1:c.264C>T | NP_001361622.1:p.Ile88= | |
| NM_001374695.1:c.-29-1398C>T | NP_001361624.1:n.-29-1398C>T | |
| NM_007171.4:c.426C>T | NP_009102.4:p.Ile142= | |
| NR_148391.2:n.460C>T | ||
| NR_148392.2:n.612C>T | ||
| NR_148393.2:n.460C>T | ||
| NR_148394.2:n.460C>T | ||
| NR_148395.2:n.612C>T | ||
| NR_148396.2:n.353C>T | ||
| NR_148397.2:n.505C>T | ||
| NR_148398.2:n.460C>T | ||
| NR_148399.2:n.852C>T | ||
| NR_148400.2:n.447+1060C>T |