Linked Data
ClinVar Variation Id:
502224
dbSNP Id:
rs765230689
gnomAD v3:
9-131512044-T-A
gnomAD v4:
9-131512044-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.131512044T>A , CM000671.2:g.131512044T>A | GRCh38 |
| NC_000009.11:g.134387431T>A , CM000671.1:g.134387431T>A | GRCh37 |
| NC_000009.10:g.133377252T>A | NCBI36 |
| NG_008896.1:g.14143T>A | |
| NG_008896.2:g.14143T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000341012.13:c.828T>A | ENSP00000343034.7:p.Tyr276Ter | |
| ENST00000404875.7:n.1530T>A | ||
| ENST00000423007.6:c.1047T>A | ENSP00000404119.2:p.Tyr349Ter | |
| ENST00000677295.2:c.*1334T>A | ENSP00000504346.2:n.*1334T>A | |
| ENST00000678264.2:c.*1173T>A | ENSP00000503157.2:n.*1173T>A | |
| ENST00000678942.2:c.*543T>A | ENSP00000504690.2:n.*543T>A | |
| ENST00000682070.1:n.1455T>A | ||
| ENST00000682813.1:n.1255T>A | ||
| ENST00000683392.1:n.3737T>A | ||
| ENST00000683712.1:n.1395T>A | ||
| ENST00000683900.1:n.2890T>A | ||
| ENST00000684062.1:n.1656T>A | ||
| ENST00000684579.1:n.2836T>A | ||
| ENST00000341012.12:c.828T>A | ENSP00000343034.7:p.Tyr276Ter | |
| ENST00000372220.5:c.-142T>A | ENSP00000361294.5:n.-142T>A | |
| ENST00000372228.9:c.1056T>A | ENSP00000361302.3:p.Tyr352Ter | |
| ENST00000402686.8:c.990T>A MANE Select | ENSP00000385797.4:p.Tyr330Ter | |
| ENST00000415075.6:c.*448T>A | ENSP00000405149.2:n.*448T>A | |
| ENST00000676640.1:c.990T>A | ENSP00000503281.1:p.Tyr330Ter | |
| ENST00000676803.1:c.165T>A | ENSP00000503093.1:p.Tyr55Ter | |
| ENST00000676835.1:c.*205T>A | ENSP00000502911.1:n.*205T>A | |
| ENST00000677029.1:c.534T>A | ENSP00000502936.1:p.Tyr178Ter | |
| ENST00000677099.1:c.*700T>A | ENSP00000504553.1:n.*700T>A | |
| ENST00000677216.1:c.639T>A | ENSP00000503772.1:p.Tyr213Ter | |
| ENST00000677293.1:c.165T>A | ENSP00000504278.1:p.Tyr55Ter | |
| ENST00000677295.1:c.*367T>A | ENSP00000504346.1:n.*367T>A | |
| ENST00000677444.1:c.796T>A | ||
| ENST00000677586.1:n.471T>A | ||
| ENST00000677626.1:c.824+577T>A | ENSP00000503552.1:n.824+577T>A | |
| ENST00000677677.1:n.950T>A | ||
| ENST00000677853.1:c.571T>A | ENSP00000503488.1:p.Ter191Arg | |
| ENST00000677944.1:c.252T>A | ||
| ENST00000678264.1:c.*367T>A | ENSP00000503157.1:n.*367T>A | |
| ENST00000678303.1:c.900T>A | ENSP00000503696.1:p.Tyr300Ter | |
| ENST00000678366.1:c.*1239T>A | ENSP00000504353.1:n.*1239T>A | |
| ENST00000678546.1:c.*935T>A | ENSP00000503062.1:n.*935T>A | |
| ENST00000678548.1:c.*1062T>A | ENSP00000503934.1:n.*1062T>A | |
| ENST00000678626.1:n.687T>A | ||
| ENST00000678733.1:c.164T>A | ||
| ENST00000678739.1:c.*1316T>A | ENSP00000503806.1:n.*1316T>A | |
| ENST00000678795.1:n.77T>A | ||
| ENST00000678833.1:c.*437T>A | ENSP00000503893.1:n.*437T>A | |
| ENST00000678942.1:c.170T>A | ENSP00000504690.1:n.170T>A | |
| ENST00000679023.1:c.828T>A | ENSP00000503718.1:p.Tyr276Ter | |
| ENST00000679073.1:c.368T>A | ENSP00000504356.1:n.368T>A | |
| ENST00000679076.1:c.609T>A | ||
| ENST00000679111.1:c.990T>A | ENSP00000504257.1:p.Tyr330Ter | |
| ENST00000679189.1:c.639T>A | ENSP00000503356.1:p.Tyr213Ter | |
| ENST00000341012.11:c.828T>A | ENSP00000343034.7:p.Tyr276Ter | |
| ENST00000372228.7:c.1056T>A | ENSP00000361302.3:p.Tyr352Ter | |
| ENST00000402686.7:c.990T>A | ENSP00000385797.3:p.Tyr330Ter | |
| ENST00000404875.6:c.639T>A | ENSP00000384531.2:p.Tyr213Ter | |
| ENST00000415075.5:c.387T>A | ENSP00000405149.1:p.Tyr129Ter | |
| ENST00000423007.5:c.990T>A | ENSP00000404119.1:p.Tyr330Ter | |
| ENST00000441334.5:c.705T>A | ENSP00000395060.1:p.Tyr235Ter | |
| ENST00000462375.5:n.816T>A | ||
| ENST00000485278.5:n.1545T>A | ||
| NM_001077365.1:c.990T>A | NP_001070833.1:p.Tyr330Ter | |
| NM_001077366.1:c.828T>A | NP_001070834.1:p.Tyr276Ter | |
| NM_001136113.1:c.990T>A | NP_001129585.1:p.Tyr330Ter | |
| NM_001136114.1:c.639T>A | NP_001129586.1:p.Tyr213Ter | |
| NM_007171.3:c.1056T>A | NP_009102.3:p.Tyr352Ter | |
| XM_005272156.1:c.1056T>A | XP_005272213.1:p.Tyr352Ter | |
| XM_005272158.1:c.894T>A | XP_005272215.1:p.Tyr298Ter | |
| XM_005272159.1:c.705T>A | XP_005272216.1:p.Tyr235Ter | |
| XM_005272162.1:c.-142T>A | XP_005272219.1:n.-142T>A | |
| XM_006716932.1:c.705T>A | XP_006716995.1:p.Tyr235Ter | |
| XM_011518140.1:c.909T>A | XP_011516442.1:p.Tyr303Ter | |
| XM_011518141.1:c.843T>A | XP_011516443.1:p.Tyr281Ter | |
| XM_011518142.1:c.747T>A | XP_011516444.1:p.Tyr249Ter | |
| XM_011518143.1:c.741T>A | XP_011516445.1:p.Tyr247Ter | |
| XM_011518144.1:c.1056T>A | XP_011516446.1:p.Tyr352Ter | |
| XM_011518145.1:c.600T>A | XP_011516447.1:p.Tyr200Ter | |
| XM_011518146.1:c.741T>A | XP_011516448.1:p.Tyr247Ter | |
| XR_929703.1:n.1232T>A | ||
| NM_001353193.1:c.1056T>A | NP_001340122.1:p.Tyr352Ter | |
| NM_001353194.1:c.828T>A | NP_001340123.1:p.Tyr276Ter | |
| NM_001353195.1:c.639T>A | NP_001340124.1:p.Tyr213Ter | |
| NM_001353196.1:c.900T>A | NP_001340125.1:p.Tyr300Ter | |
| NM_001353197.1:c.894T>A | NP_001340126.1:p.Tyr298Ter | |
| NM_001353198.1:c.894T>A | NP_001340127.1:p.Tyr298Ter | |
| NM_001353199.1:c.705T>A | NP_001340128.1:p.Tyr235Ter | |
| NM_001353200.1:c.534T>A | NP_001340129.1:p.Tyr178Ter | |
| NR_148391.1:n.1040T>A | ||
| NR_148392.1:n.1258T>A | ||
| NR_148393.1:n.1040T>A | ||
| NR_148394.1:n.933T>A | ||
| NR_148395.1:n.1192T>A | ||
| NR_148396.1:n.826T>A | ||
| NR_148397.1:n.1090T>A | ||
| NR_148398.1:n.1045T>A | ||
| NR_148399.1:n.1432T>A | ||
| NR_148400.1:n.1031T>A | ||
| XM_005272162.3:c.-142T>A | XP_005272219.1:n.-142T>A | |
| XM_006716932.2:c.705T>A | XP_006716995.1:p.Tyr235Ter | |
| XM_011518140.2:c.909T>A | XP_011516442.1:p.Tyr303Ter | |
| XM_011518141.2:c.843T>A | XP_011516443.1:p.Tyr281Ter | |
| XM_011518142.2:c.747T>A | XP_011516444.1:p.Tyr249Ter | |
| XM_011518143.2:c.741T>A | XP_011516445.1:p.Tyr247Ter | |
| XM_011518145.2:c.600T>A | XP_011516447.1:p.Tyr200Ter | |
| XM_017014205.2:c.-142T>A | XP_016869694.1:n.-142T>A | |
| XM_024447380.1:c.-142T>A | XP_024303148.1:n.-142T>A | |
| XM_024447381.1:c.165T>A | XP_024303149.1:p.Tyr55Ter | |
| XM_024447382.1:c.-142T>A | XP_024303150.1:n.-142T>A | |
| XR_001746160.2:n.1160T>A | ||
| XR_001746162.2:n.1226T>A | ||
| XR_001746164.1:n.943T>A | ||
| XR_001746166.2:n.1377T>A | ||
| NM_001077365.2:c.990T>A MANE Select | NP_001070833.1:p.Tyr330Ter | |
| NM_001077366.2:c.828T>A | NP_001070834.1:p.Tyr276Ter | |
| NM_001136113.2:c.990T>A | NP_001129585.1:p.Tyr330Ter | |
| NM_001136114.2:c.639T>A | NP_001129586.1:p.Tyr213Ter | |
| NM_001353193.2:c.1056T>A | NP_001340122.2:p.Tyr352Ter | |
| NM_001353194.2:c.828T>A | NP_001340123.1:p.Tyr276Ter | |
| NM_001353195.2:c.639T>A | NP_001340124.1:p.Tyr213Ter | |
| NM_001353196.2:c.900T>A | NP_001340125.1:p.Tyr300Ter | |
| NM_001353197.2:c.894T>A | NP_001340126.2:p.Tyr298Ter | |
| NM_001353198.2:c.894T>A | NP_001340127.2:p.Tyr298Ter | |
| NM_001353199.2:c.705T>A | NP_001340128.2:p.Tyr235Ter | |
| NM_001353200.2:c.534T>A | NP_001340129.1:p.Tyr178Ter | |
| NM_001374689.1:c.978T>A | NP_001361618.1:p.Tyr326Ter | |
| NM_001374690.1:c.990T>A | NP_001361619.1:p.Tyr330Ter | |
| NM_001374691.1:c.639T>A | NP_001361620.1:p.Tyr213Ter | |
| NM_001374692.1:c.639T>A | NP_001361621.1:p.Tyr213Ter | |
| NM_001374693.1:c.824+577T>A | NP_001361622.1:n.824+577T>A | |
| NM_001374695.1:c.600T>A | NP_001361624.1:p.Tyr200Ter | |
| NM_007171.4:c.1056T>A | NP_009102.4:p.Tyr352Ter | |
| NR_148391.2:n.1024T>A | ||
| NR_148392.2:n.1242T>A | ||
| NR_148393.2:n.1024T>A | ||
| NR_148394.2:n.917T>A | ||
| NR_148395.2:n.1176T>A | ||
| NR_148396.2:n.810T>A | ||
| NR_148397.2:n.1074T>A | ||
| NR_148398.2:n.1029T>A | ||
| NR_148399.2:n.1416T>A | ||
| NR_148400.2:n.1015T>A |