Linked Data
ClinVar Variation Id:
436379
dbSNP Id:
rs371243573
ExAC:
9:134386789 G / T
gnomAD v2:
9-134386789-G-T
gnomAD v3:
9-131511402-G-T
gnomAD v4:
9-131511402-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.131511402G>T , CM000671.2:g.131511402G>T | GRCh38 |
| NC_000009.11:g.134386789G>T , CM000671.1:g.134386789G>T | GRCh37 |
| NC_000009.10:g.133376610G>T | NCBI36 |
| NG_008896.1:g.13501G>T | |
| NG_008896.2:g.13501G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341012.13:c.759G>T | ENSP00000343034.7:p.Leu253= | |
| ENST00000404875.7:n.1293G>T | ||
| ENST00000423007.6:c.978G>T | ENSP00000404119.2:p.Leu326= | |
| ENST00000677295.2:c.*1260G>T | ENSP00000504346.2:n.*1260G>T | |
| ENST00000678264.2:c.*1104G>T | ENSP00000503157.2:n.*1104G>T | |
| ENST00000678942.2:c.*474G>T | ENSP00000504690.2:n.*474G>T | |
| ENST00000682070.1:n.1381G>T | ||
| ENST00000682813.1:n.1186G>T | ||
| ENST00000683134.1:c.288G>T | ||
| ENST00000683392.1:n.3668G>T | ||
| ENST00000683712.1:n.1321G>T | ||
| ENST00000683900.1:n.2248G>T | ||
| ENST00000684062.1:n.1587G>T | ||
| ENST00000684579.1:n.2762G>T | ||
| ENST00000341012.12:c.759G>T | ENSP00000343034.7:p.Leu253= | |
| ENST00000372220.5:c.-145-639G>T | ENSP00000361294.5:n.-145-639G>T | |
| ENST00000372228.9:c.987G>T | ENSP00000361302.3:p.Leu329= | |
| ENST00000402686.8:c.921G>T MANE Select | ENSP00000385797.4:p.Leu307= | |
| ENST00000415075.6:c.*374G>T | ENSP00000405149.2:n.*374G>T | |
| ENST00000676640.1:c.921G>T | ENSP00000503281.1:p.Leu307= | |
| ENST00000676803.1:c.96G>T | ENSP00000503093.1:p.Leu32= | |
| ENST00000676835.1:c.*131G>T | ENSP00000502911.1:n.*131G>T | |
| ENST00000677029.1:c.465G>T | ENSP00000502936.1:p.Leu155= | |
| ENST00000677099.1:c.*631G>T | ENSP00000504553.1:n.*631G>T | |
| ENST00000677216.1:c.570G>T | ENSP00000503772.1:p.Leu190= | |
| ENST00000677293.1:c.96G>T | ENSP00000504278.1:p.Leu32= | |
| ENST00000677295.1:c.*293G>T | ENSP00000504346.1:n.*293G>T | |
| ENST00000677444.1:c.727G>T | ||
| ENST00000677586.1:n.402G>T | ||
| ENST00000677626.1:c.759G>T | ENSP00000503552.1:p.Leu253= | |
| ENST00000677677.1:n.881G>T | ||
| ENST00000677853.1:c.502G>T | ENSP00000503488.1:p.Glu168Ter | |
| ENST00000677944.1:c.183G>T | ||
| ENST00000678264.1:c.*293G>T | ENSP00000503157.1:n.*293G>T | |
| ENST00000678303.1:c.831G>T | ENSP00000503696.1:p.Leu277= | |
| ENST00000678366.1:c.*1170G>T | ENSP00000504353.1:n.*1170G>T | |
| ENST00000678546.1:c.*293G>T | ENSP00000503062.1:n.*293G>T | |
| ENST00000678548.1:c.*988G>T | ENSP00000503934.1:n.*988G>T | |
| ENST00000678626.1:n.613G>T | ||
| ENST00000678707.1:n.559G>T | ||
| ENST00000678733.1:c.95G>T | ||
| ENST00000678739.1:c.*1242G>T | ENSP00000503806.1:n.*1242G>T | |
| ENST00000678833.1:c.*368G>T | ENSP00000503893.1:n.*368G>T | |
| ENST00000678942.1:c.96G>T | ENSP00000504690.1:p.Leu32= | |
| ENST00000679023.1:c.759G>T | ENSP00000503718.1:p.Leu253= | |
| ENST00000679073.1:c.299G>T | ENSP00000504356.1:n.299G>T | |
| ENST00000679076.1:c.535G>T | ||
| ENST00000679111.1:c.921G>T | ENSP00000504257.1:p.Leu307= | |
| ENST00000679189.1:c.570G>T | ENSP00000503356.1:p.Leu190= | |
| ENST00000341012.11:c.759G>T | ENSP00000343034.7:p.Leu253= | |
| ENST00000372228.7:c.987G>T | ENSP00000361302.3:p.Leu329= | |
| ENST00000402686.7:c.921G>T | ENSP00000385797.3:p.Leu307= | |
| ENST00000404875.6:c.570G>T | ENSP00000384531.2:p.Leu190= | |
| ENST00000415075.5:c.313G>T | ENSP00000405149.1:p.Glu105Ter | |
| ENST00000423007.5:c.921G>T | ENSP00000404119.1:p.Leu307= | |
| ENST00000441334.5:c.636G>T | ENSP00000395060.1:p.Leu212= | |
| ENST00000462375.5:n.742G>T | ||
| ENST00000485278.5:n.903G>T | ||
| NM_001077365.1:c.921G>T | NP_001070833.1:p.Leu307= | |
| NM_001077366.1:c.759G>T | NP_001070834.1:p.Leu253= | |
| NM_001136113.1:c.921G>T | NP_001129585.1:p.Leu307= | |
| NM_001136114.1:c.570G>T | NP_001129586.1:p.Leu190= | |
| NM_007171.3:c.987G>T | NP_009102.3:p.Leu329= | |
| XM_005272156.1:c.987G>T | XP_005272213.1:p.Leu329= | |
| XM_005272158.1:c.825G>T | XP_005272215.1:p.Leu275= | |
| XM_005272159.1:c.636G>T | XP_005272216.1:p.Leu212= | |
| XM_005272162.1:c.-216G>T | XP_005272219.1:n.-216G>T | |
| XM_006716932.1:c.636G>T | XP_006716995.1:p.Leu212= | |
| XM_011518140.1:c.840G>T | XP_011516442.1:p.Leu280= | |
| XM_011518141.1:c.774G>T | XP_011516443.1:p.Leu258= | |
| XM_011518142.1:c.678G>T | XP_011516444.1:p.Leu226= | |
| XM_011518143.1:c.667G>T | XP_011516445.1:p.Glu223Ter | |
| XM_011518144.1:c.987G>T | XP_011516446.1:p.Leu329= | |
| XM_011518145.1:c.531G>T | XP_011516447.1:p.Leu177= | |
| XM_011518146.1:c.667G>T | XP_011516448.1:p.Glu223Ter | |
| XR_929703.1:n.1163G>T | ||
| NM_001353193.1:c.987G>T | NP_001340122.1:p.Leu329= | |
| NM_001353194.1:c.759G>T | NP_001340123.1:p.Leu253= | |
| NM_001353195.1:c.570G>T | NP_001340124.1:p.Leu190= | |
| NM_001353196.1:c.831G>T | NP_001340125.1:p.Leu277= | |
| NM_001353197.1:c.825G>T | NP_001340126.1:p.Leu275= | |
| NM_001353198.1:c.825G>T | NP_001340127.1:p.Leu275= | |
| NM_001353199.1:c.636G>T | NP_001340128.1:p.Leu212= | |
| NM_001353200.1:c.465G>T | NP_001340129.1:p.Leu155= | |
| NR_148391.1:n.971G>T | ||
| NR_148392.1:n.1189G>T | ||
| NR_148393.1:n.971G>T | ||
| NR_148394.1:n.859G>T | ||
| NR_148395.1:n.1123G>T | ||
| NR_148396.1:n.752G>T | ||
| NR_148397.1:n.1016G>T | ||
| NR_148398.1:n.971G>T | ||
| NR_148399.1:n.1363G>T | ||
| NR_148400.1:n.957G>T | ||
| XM_005272162.3:c.-216G>T | XP_005272219.1:n.-216G>T | |
| XM_006716932.2:c.636G>T | XP_006716995.1:p.Leu212= | |
| XM_011518140.2:c.840G>T | XP_011516442.1:p.Leu280= | |
| XM_011518141.2:c.774G>T | XP_011516443.1:p.Leu258= | |
| XM_011518142.2:c.678G>T | XP_011516444.1:p.Leu226= | |
| XM_011518143.2:c.667G>T | XP_011516445.1:p.Glu223Ter | |
| XM_011518145.2:c.531G>T | XP_011516447.1:p.Leu177= | |
| XM_017014205.2:c.-216G>T | XP_016869694.1:n.-216G>T | |
| XM_024447380.1:c.-216G>T | XP_024303148.1:n.-216G>T | |
| XM_024447381.1:c.96G>T | XP_024303149.1:p.Leu32= | |
| XM_024447382.1:c.-216G>T | XP_024303150.1:n.-216G>T | |
| XR_001746160.2:n.1091G>T | ||
| XR_001746162.2:n.1157G>T | ||
| XR_001746164.1:n.869G>T | ||
| XR_001746166.2:n.1308G>T | ||
| NM_001077365.2:c.921G>T MANE Select | NP_001070833.1:p.Leu307= | |
| NM_001077366.2:c.759G>T | NP_001070834.1:p.Leu253= | |
| NM_001136113.2:c.921G>T | NP_001129585.1:p.Leu307= | |
| NM_001136114.2:c.570G>T | NP_001129586.1:p.Leu190= | |
| NM_001353193.2:c.987G>T | NP_001340122.2:p.Leu329= | |
| NM_001353194.2:c.759G>T | NP_001340123.1:p.Leu253= | |
| NM_001353195.2:c.570G>T | NP_001340124.1:p.Leu190= | |
| NM_001353196.2:c.831G>T | NP_001340125.1:p.Leu277= | |
| NM_001353197.2:c.825G>T | NP_001340126.2:p.Leu275= | |
| NM_001353198.2:c.825G>T | NP_001340127.2:p.Leu275= | |
| NM_001353199.2:c.636G>T | NP_001340128.2:p.Leu212= | |
| NM_001353200.2:c.465G>T | NP_001340129.1:p.Leu155= | |
| NM_001374689.1:c.904G>T | NP_001361618.1:p.Glu302Ter | |
| NM_001374690.1:c.921G>T | NP_001361619.1:p.Leu307= | |
| NM_001374691.1:c.570G>T | NP_001361620.1:p.Leu190= | |
| NM_001374692.1:c.570G>T | NP_001361621.1:p.Leu190= | |
| NM_001374693.1:c.759G>T | NP_001361622.1:p.Leu253= | |
| NM_001374695.1:c.531G>T | NP_001361624.1:p.Leu177= | |
| NM_007171.4:c.987G>T | NP_009102.4:p.Leu329= | |
| NR_148391.2:n.955G>T | ||
| NR_148392.2:n.1173G>T | ||
| NR_148393.2:n.955G>T | ||
| NR_148394.2:n.843G>T | ||
| NR_148395.2:n.1107G>T | ||
| NR_148396.2:n.736G>T | ||
| NR_148397.2:n.1000G>T | ||
| NR_148398.2:n.955G>T | ||
| NR_148399.2:n.1347G>T | ||
| NR_148400.2:n.941G>T |