Linked Data
ClinVar Variation Id:
290090
dbSNP Id:
rs148887050
ExAC:
9:134381806 C / T
gnomAD v2:
9-134381806-C-T
gnomAD v3:
9-131506419-C-T
gnomAD v4:
9-131506419-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.131506419C>T , CM000671.2:g.131506419C>T | GRCh38 |
| NC_000009.11:g.134381806C>T , CM000671.1:g.134381806C>T | GRCh37 |
| NC_000009.10:g.133371627C>T | NCBI36 |
| NG_008896.1:g.8518C>T | |
| NG_008896.2:g.8518C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341012.13:c.84C>T | ENSP00000343034.7:p.Phe28= | |
| ENST00000404875.7:n.355C>T | ||
| ENST00000423007.6:c.237C>T | ENSP00000404119.2:p.Phe79= | |
| ENST00000677295.2:c.*322C>T | ENSP00000504346.2:n.*322C>T | |
| ENST00000678264.2:c.*429C>T | ENSP00000503157.2:n.*429C>T | |
| ENST00000678768.2:n.213C>T | ||
| ENST00000678942.2:c.122+2079C>T | ENSP00000504690.2:n.122+2079C>T | |
| ENST00000682070.1:n.443C>T | ||
| ENST00000682813.1:n.248C>T | ||
| ENST00000683229.1:c.-29-2492C>T | ENSP00000506964.1:n.-29-2492C>T | |
| ENST00000683392.1:n.420C>T | ||
| ENST00000683712.1:n.383C>T | ||
| ENST00000683900.1:n.1422C>T | ||
| ENST00000684579.1:n.428C>T | ||
| ENST00000341012.12:c.84C>T | ENSP00000343034.7:p.Phe28= | |
| ENST00000372220.5:c.-146+3346C>T | ENSP00000361294.5:n.-146+3346C>T | |
| ENST00000372228.9:c.246C>T | ENSP00000361302.3:p.Phe82= | |
| ENST00000402686.8:c.246C>T MANE Select | ENSP00000385797.4:p.Phe82= | |
| ENST00000415075.6:c.139C>T | ENSP00000405149.2:p.Arg47Ter | |
| ENST00000418774.6:c.177C>T | ENSP00000390737.2:p.Phe59= | |
| ENST00000430619.2:c.-64C>T | ENSP00000402083.2:n.-64C>T | |
| ENST00000483472.2:n.214C>T | ||
| ENST00000676640.1:c.246C>T | ENSP00000503281.1:p.Phe82= | |
| ENST00000676803.1:c.-127+3346C>T | ENSP00000503093.1:n.-127+3346C>T | |
| ENST00000676835.1:c.-106C>T | ENSP00000502911.1:n.-106C>T | |
| ENST00000676915.1:c.246C>T | ENSP00000504628.1:p.Phe82= | |
| ENST00000677028.1:c.84C>T | ENSP00000503896.1:p.Phe28= | |
| ENST00000677029.1:c.-64C>T | ENSP00000502936.1:n.-64C>T | |
| ENST00000677099.1:c.123-949C>T | ENSP00000504553.1:n.123-949C>T | |
| ENST00000677167.1:c.246C>T | ENSP00000503307.1:p.Phe82= | |
| ENST00000677216.1:c.-106C>T | ENSP00000503772.1:n.-106C>T | |
| ENST00000677293.1:c.-30+3346C>T | ENSP00000504278.1:n.-30+3346C>T | |
| ENST00000677295.1:c.84C>T | ENSP00000504346.1:p.Phe28= | |
| ENST00000677586.1:n.146C>T | ||
| ENST00000677626.1:c.84C>T | ENSP00000503552.1:p.Phe28= | |
| ENST00000677677.1:n.206C>T | ||
| ENST00000677729.1:c.246C>T | ENSP00000503581.1:p.Phe82= | |
| ENST00000677853.1:c.84C>T | ENSP00000503488.1:p.Phe28= | |
| ENST00000678264.1:c.246C>T | ENSP00000503157.1:p.Phe82= | |
| ENST00000678303.1:c.139C>T | ENSP00000503696.1:p.Arg47Ter | |
| ENST00000678366.1:c.*429C>T | ENSP00000504353.1:n.*429C>T | |
| ENST00000678546.1:c.84C>T | ENSP00000503062.1:p.Phe28= | |
| ENST00000678548.1:c.139C>T | ENSP00000503934.1:p.Arg47Ter | |
| ENST00000678626.1:n.85C>T | ||
| ENST00000678707.1:n.143C>T | ||
| ENST00000678739.1:c.*304C>T | ENSP00000503806.1:n.*304C>T | |
| ENST00000678785.1:c.84C>T | ENSP00000504231.1:p.Phe28= | |
| ENST00000678833.1:c.246C>T | ENSP00000503893.1:p.Phe82= | |
| ENST00000679023.1:c.84C>T | ENSP00000503718.1:p.Phe28= | |
| ENST00000679111.1:c.246C>T | ENSP00000504257.1:p.Phe82= | |
| ENST00000679189.1:c.-71-949C>T | ENSP00000503356.1:n.-71-949C>T | |
| ENST00000679221.1:c.-106C>T | ENSP00000504422.1:n.-106C>T | |
| ENST00000341012.11:c.84C>T | ENSP00000343034.7:p.Phe28= | |
| ENST00000372228.7:c.246C>T | ENSP00000361302.3:p.Phe82= | |
| ENST00000402686.7:c.246C>T | ENSP00000385797.3:p.Phe82= | |
| ENST00000404875.6:c.-106C>T | ENSP00000384531.2:n.-106C>T | |
| ENST00000415075.5:c.-106C>T | ENSP00000405149.1:n.-106C>T | |
| ENST00000418774.5:c.246C>T | ENSP00000390737.1:p.Phe82= | |
| ENST00000423007.5:c.246C>T | ENSP00000404119.1:p.Phe82= | |
| ENST00000430619.1:c.-106C>T | ENSP00000402083.1:n.-106C>T | |
| ENST00000441334.5:c.-106C>T | ENSP00000395060.1:n.-106C>T | |
| ENST00000448212.5:c.84C>T | ENSP00000403736.1:p.Phe28= | |
| ENST00000483472.1:n.214C>T | ||
| NM_001077365.1:c.246C>T | NP_001070833.1:p.Phe82= | |
| NM_001077366.1:c.84C>T | NP_001070834.1:p.Phe28= | |
| NM_001136113.1:c.246C>T | NP_001129585.1:p.Phe82= | |
| NM_001136114.1:c.-106C>T | NP_001129586.1:n.-106C>T | |
| NM_007171.3:c.246C>T | NP_009102.3:p.Phe82= | |
| XM_005272156.1:c.246C>T | XP_005272213.1:p.Phe82= | |
| XM_005272158.1:c.84C>T | XP_005272215.1:p.Phe28= | |
| XM_005272159.1:c.-106C>T | XP_005272216.1:n.-106C>T | |
| XM_005272162.1:c.-1154C>T | XP_005272219.1:n.-1154C>T | |
| XM_006716932.1:c.-106C>T | XP_006716995.1:n.-106C>T | |
| XM_011518140.1:c.246C>T | XP_011516442.1:p.Phe82= | |
| XM_011518141.1:c.246C>T | XP_011516443.1:p.Phe82= | |
| XM_011518142.1:c.84C>T | XP_011516444.1:p.Phe28= | |
| XM_011518143.1:c.139C>T | XP_011516445.1:p.Arg47Ter | |
| XM_011518144.1:c.246C>T | XP_011516446.1:p.Phe82= | |
| XM_011518145.1:c.-64C>T | XP_011516447.1:n.-64C>T | |
| XM_011518146.1:c.139C>T | XP_011516448.1:p.Arg47Ter | |
| XR_929703.1:n.422C>T | ||
| NM_001353193.1:c.246C>T | NP_001340122.1:p.Phe82= | |
| NM_001353194.1:c.84C>T | NP_001340123.1:p.Phe28= | |
| NM_001353195.1:c.-106C>T | NP_001340124.1:n.-106C>T | |
| NM_001353196.1:c.139C>T | NP_001340125.1:p.Arg47Ter | |
| NM_001353197.1:c.84C>T | NP_001340126.1:p.Phe28= | |
| NM_001353198.1:c.84C>T | NP_001340127.1:p.Phe28= | |
| NM_001353199.1:c.-106C>T | NP_001340128.1:n.-106C>T | |
| NM_001353200.1:c.-64C>T | NP_001340129.1:n.-64C>T | |
| NR_148391.1:n.296C>T | ||
| NR_148392.1:n.448C>T | ||
| NR_148393.1:n.296C>T | ||
| NR_148394.1:n.296C>T | ||
| NR_148395.1:n.448C>T | ||
| NR_148396.1:n.189C>T | ||
| NR_148397.1:n.341C>T | ||
| NR_148398.1:n.296C>T | ||
| NR_148399.1:n.688C>T | ||
| NR_148400.1:n.429C>T | ||
| XM_005272162.3:c.-1154C>T | XP_005272219.1:n.-1154C>T | |
| XM_006716932.2:c.-106C>T | XP_006716995.1:n.-106C>T | |
| XM_011518140.2:c.246C>T | XP_011516442.1:p.Phe82= | |
| XM_011518141.2:c.246C>T | XP_011516443.1:p.Phe82= | |
| XM_011518142.2:c.84C>T | XP_011516444.1:p.Phe28= | |
| XM_011518143.2:c.139C>T | XP_011516445.1:p.Arg47Ter | |
| XM_011518145.2:c.-64C>T | XP_011516447.1:n.-64C>T | |
| XM_017014205.2:c.-957C>T | XP_016869694.1:n.-957C>T | |
| XM_024447380.1:c.-744C>T | XP_024303148.1:n.-744C>T | |
| XM_024447381.1:c.-843C>T | XP_024303149.1:n.-843C>T | |
| XM_024447382.1:c.-2550C>T | XP_024303150.1:n.-2550C>T | |
| XR_001746160.2:n.416C>T | ||
| XR_001746162.2:n.416C>T | ||
| XR_001746164.1:n.341C>T | ||
| XR_001746166.2:n.370C>T | ||
| NM_001077365.2:c.246C>T MANE Select | NP_001070833.1:p.Phe82= | |
| NM_001077366.2:c.84C>T | NP_001070834.1:p.Phe28= | |
| NM_001136113.2:c.246C>T | NP_001129585.1:p.Phe82= | |
| NM_001136114.2:c.-106C>T | NP_001129586.1:n.-106C>T | |
| NM_001353193.2:c.246C>T | NP_001340122.2:p.Phe82= | |
| NM_001353194.2:c.84C>T | NP_001340123.1:p.Phe28= | |
| NM_001353195.2:c.-106C>T | NP_001340124.1:n.-106C>T | |
| NM_001353196.2:c.139C>T | NP_001340125.1:p.Arg47Ter | |
| NM_001353197.2:c.84C>T | NP_001340126.2:p.Phe28= | |
| NM_001353198.2:c.84C>T | NP_001340127.2:p.Phe28= | |
| NM_001353199.2:c.-106C>T | NP_001340128.2:n.-106C>T | |
| NM_001353200.2:c.-64C>T | NP_001340129.1:n.-64C>T | |
| NM_001374689.1:c.84C>T | NP_001361618.1:p.Phe28= | |
| NM_001374690.1:c.246C>T | NP_001361619.1:p.Phe82= | |
| NM_001374691.1:c.-71-949C>T | NP_001361620.1:n.-71-949C>T | |
| NM_001374692.1:c.-71-949C>T | NP_001361621.1:n.-71-949C>T | |
| NM_001374693.1:c.84C>T | NP_001361622.1:p.Phe28= | |
| NM_001374695.1:c.-30+2079C>T | NP_001361624.1:n.-30+2079C>T | |
| NM_007171.4:c.246C>T | NP_009102.4:p.Phe82= | |
| NR_148391.2:n.280C>T | ||
| NR_148392.2:n.432C>T | ||
| NR_148393.2:n.280C>T | ||
| NR_148394.2:n.280C>T | ||
| NR_148395.2:n.432C>T | ||
| NR_148396.2:n.173C>T | ||
| NR_148397.2:n.325C>T | ||
| NR_148398.2:n.280C>T | ||
| NR_148399.2:n.672C>T | ||
| NR_148400.2:n.413C>T |