Linked Data
ClinVar Variation Id:
1806943
ClinVar RCV Id:
RCV002474372
dbSNP Id:
rs1176084945
gnomAD v3:
9-131518487-A-T
gnomAD v4:
9-131518487-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.131518487A>T , CM000671.2:g.131518487A>T | GRCh38 |
| NC_000009.11:g.134393874A>T , CM000671.1:g.134393874A>T | GRCh37 |
| NC_000009.10:g.133383695A>T | NCBI36 |
| NG_008896.1:g.20586A>T | |
| NG_008896.2:g.20586A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341012.13:c.1153A>T | ENSP00000343034.7:p.Ile385Phe | |
| ENST00000404875.7:n.1855A>T | ||
| ENST00000423007.6:c.1372A>T | ENSP00000404119.2:p.Ile458Phe | |
| ENST00000677295.2:c.*1659A>T | ENSP00000504346.2:n.*1659A>T | |
| ENST00000678264.2:c.*1498A>T | ENSP00000503157.2:n.*1498A>T | |
| ENST00000682070.1:n.1780A>T | ||
| ENST00000682535.1:n.87A>T | ||
| ENST00000682539.1:c.253A>T | ||
| ENST00000682813.1:n.1580A>T | ||
| ENST00000683110.1:n.43A>T | ||
| ENST00000683392.1:n.4062A>T | ||
| ENST00000683712.1:n.1720A>T | ||
| ENST00000683900.1:n.3215A>T | ||
| ENST00000684062.1:n.1981A>T | ||
| ENST00000684579.1:n.3161A>T | ||
| ENST00000684679.1:n.542A>T | ||
| ENST00000341012.12:c.1153A>T | ENSP00000343034.7:p.Ile385Phe | |
| ENST00000372220.5:c.184A>T | ENSP00000361294.5:p.Ile62Phe | |
| ENST00000372228.9:c.1381A>T | ENSP00000361302.3:p.Ile461Phe | |
| ENST00000402686.8:c.1315A>T MANE Select | ENSP00000385797.4:p.Ile439Phe | |
| ENST00000676640.1:c.1315A>T | ENSP00000503281.1:p.Ile439Phe | |
| ENST00000676803.1:c.490A>T | ENSP00000503093.1:p.Ile164Phe | |
| ENST00000676835.1:c.*530A>T | ENSP00000502911.1:n.*530A>T | |
| ENST00000677029.1:c.859A>T | ENSP00000502936.1:p.Ile287Phe | |
| ENST00000677099.1:c.*1025A>T | ENSP00000504553.1:n.*1025A>T | |
| ENST00000677216.1:c.964A>T | ENSP00000503772.1:p.Ile322Phe | |
| ENST00000677221.1:n.340A>T | ||
| ENST00000677295.1:c.*692A>T | ENSP00000504346.1:n.*692A>T | |
| ENST00000677444.1:c.1121A>T | ||
| ENST00000677586.1:n.796A>T | ||
| ENST00000677626.1:c.964A>T | ENSP00000503552.1:p.Ile322Phe | |
| ENST00000677677.1:n.1275A>T | ||
| ENST00000677853.1:c.*323A>T | ENSP00000503488.1:n.*323A>T | |
| ENST00000677983.1:n.404A>T | ||
| ENST00000678202.1:n.335A>T | ||
| ENST00000678264.1:c.*692A>T | ENSP00000503157.1:n.*692A>T | |
| ENST00000678303.1:c.1225A>T | ENSP00000503696.1:p.Ile409Phe | |
| ENST00000678366.1:c.*1564A>T | ENSP00000504353.1:n.*1564A>T | |
| ENST00000678546.1:c.*1260A>T | ENSP00000503062.1:n.*1260A>T | |
| ENST00000678548.1:c.*1387A>T | ENSP00000503934.1:n.*1387A>T | |
| ENST00000678626.1:n.1012A>T | ||
| ENST00000678733.1:c.396A>T | ||
| ENST00000678739.1:c.*1641A>T | ENSP00000503806.1:n.*1641A>T | |
| ENST00000678795.1:n.402A>T | ||
| ENST00000678833.1:c.*762A>T | ENSP00000503893.1:n.*762A>T | |
| ENST00000678942.1:c.495A>T | ENSP00000504690.1:n.495A>T | |
| ENST00000679023.1:c.1153A>T | ENSP00000503718.1:p.Ile385Phe | |
| ENST00000679076.1:c.934A>T | ||
| ENST00000679111.1:c.1315A>T | ENSP00000504257.1:p.Ile439Phe | |
| ENST00000679189.1:c.964A>T | ENSP00000503356.1:p.Ile322Phe | |
| ENST00000341012.11:c.1153A>T | ENSP00000343034.7:p.Ile385Phe | |
| ENST00000372220.4:c.178A>T | ENSP00000361294.4:p.Ile60Phe | |
| ENST00000372228.7:c.1381A>T | ENSP00000361302.3:p.Ile461Phe | |
| ENST00000402686.7:c.1315A>T | ENSP00000385797.3:p.Ile439Phe | |
| ENST00000404875.6:c.964A>T | ENSP00000384531.2:p.Ile322Phe | |
| ENST00000423007.5:c.1315A>T | ENSP00000404119.1:p.Ile439Phe | |
| ENST00000485278.5:n.1870A>T | ||
| NM_001077365.1:c.1315A>T | NP_001070833.1:p.Ile439Phe | |
| NM_001077366.1:c.1153A>T | NP_001070834.1:p.Ile385Phe | |
| NM_001136113.1:c.1315A>T | NP_001129585.1:p.Ile439Phe | |
| NM_001136114.1:c.964A>T | NP_001129586.1:p.Ile322Phe | |
| NM_007171.3:c.1381A>T | NP_009102.3:p.Ile461Phe | |
| XM_005272156.1:c.1381A>T | XP_005272213.1:p.Ile461Phe | |
| XM_005272158.1:c.1219A>T | XP_005272215.1:p.Ile407Phe | |
| XM_005272159.1:c.1030A>T | XP_005272216.1:p.Ile344Phe | |
| XM_005272162.1:c.184A>T | XP_005272219.1:p.Ile62Phe | |
| XM_006716932.1:c.1030A>T | XP_006716995.1:p.Ile344Phe | |
| XM_011518140.1:c.1234A>T | XP_011516442.1:p.Ile412Phe | |
| XM_011518141.1:c.1168A>T | XP_011516443.1:p.Ile390Phe | |
| XM_011518142.1:c.1072A>T | XP_011516444.1:p.Ile358Phe | |
| XM_011518143.1:c.1066A>T | XP_011516445.1:p.Ile356Phe | |
| XM_011518144.1:c.1381A>T | XP_011516446.1:p.Ile461Phe | |
| XM_011518145.1:c.925A>T | XP_011516447.1:p.Ile309Phe | |
| XM_011518146.1:c.1066A>T | XP_011516448.1:p.Ile356Phe | |
| XM_011518147.1:c.253A>T | XP_011516449.1:p.Ile85Phe | |
| XR_929703.1:n.1557A>T | ||
| NM_001353193.1:c.1381A>T | NP_001340122.1:p.Ile461Phe | |
| NM_001353194.1:c.1153A>T | NP_001340123.1:p.Ile385Phe | |
| NM_001353195.1:c.964A>T | NP_001340124.1:p.Ile322Phe | |
| NM_001353196.1:c.1225A>T | NP_001340125.1:p.Ile409Phe | |
| NM_001353197.1:c.1219A>T | NP_001340126.1:p.Ile407Phe | |
| NM_001353198.1:c.1219A>T | NP_001340127.1:p.Ile407Phe | |
| NM_001353199.1:c.1030A>T | NP_001340128.1:p.Ile344Phe | |
| NM_001353200.1:c.859A>T | NP_001340129.1:p.Ile287Phe | |
| NR_148391.1:n.1365A>T | ||
| NR_148392.1:n.1583A>T | ||
| NR_148393.1:n.1365A>T | ||
| NR_148394.1:n.1258A>T | ||
| NR_148395.1:n.1517A>T | ||
| NR_148396.1:n.1151A>T | ||
| NR_148397.1:n.1415A>T | ||
| NR_148398.1:n.1370A>T | ||
| NR_148399.1:n.1757A>T | ||
| NR_148400.1:n.1356A>T | ||
| XM_005272162.3:c.184A>T | XP_005272219.1:p.Ile62Phe | |
| XM_006716932.2:c.1030A>T | XP_006716995.1:p.Ile344Phe | |
| XM_011518140.2:c.1234A>T | XP_011516442.1:p.Ile412Phe | |
| XM_011518141.2:c.1168A>T | XP_011516443.1:p.Ile390Phe | |
| XM_011518142.2:c.1072A>T | XP_011516444.1:p.Ile358Phe | |
| XM_011518143.2:c.1066A>T | XP_011516445.1:p.Ile356Phe | |
| XM_011518145.2:c.925A>T | XP_011516447.1:p.Ile309Phe | |
| XM_017014205.2:c.184A>T | XP_016869694.1:p.Ile62Phe | |
| XM_024447380.1:c.184A>T | XP_024303148.1:p.Ile62Phe | |
| XM_024447381.1:c.490A>T | XP_024303149.1:p.Ile164Phe | |
| XM_024447382.1:c.184A>T | XP_024303150.1:p.Ile62Phe | |
| XR_001746160.2:n.1485A>T | ||
| XR_001746162.2:n.1551A>T | ||
| XR_001746164.1:n.1268A>T | ||
| XR_001746166.2:n.1702A>T | ||
| NM_001077365.2:c.1315A>T MANE Select | NP_001070833.1:p.Ile439Phe | |
| NM_001077366.2:c.1153A>T | NP_001070834.1:p.Ile385Phe | |
| NM_001136113.2:c.1315A>T | NP_001129585.1:p.Ile439Phe | |
| NM_001136114.2:c.964A>T | NP_001129586.1:p.Ile322Phe | |
| NM_001353193.2:c.1381A>T | NP_001340122.2:p.Ile461Phe | |
| NM_001353194.2:c.1153A>T | NP_001340123.1:p.Ile385Phe | |
| NM_001353195.2:c.964A>T | NP_001340124.1:p.Ile322Phe | |
| NM_001353196.2:c.1225A>T | NP_001340125.1:p.Ile409Phe | |
| NM_001353197.2:c.1219A>T | NP_001340126.2:p.Ile407Phe | |
| NM_001353198.2:c.1219A>T | NP_001340127.2:p.Ile407Phe | |
| NM_001353199.2:c.1030A>T | NP_001340128.2:p.Ile344Phe | |
| NM_001353200.2:c.859A>T | NP_001340129.1:p.Ile287Phe | |
| NM_001374689.1:c.1303A>T | NP_001361618.1:p.Ile435Phe | |
| NM_001374690.1:c.1315A>T | NP_001361619.1:p.Ile439Phe | |
| NM_001374691.1:c.964A>T | NP_001361620.1:p.Ile322Phe | |
| NM_001374692.1:c.964A>T | NP_001361621.1:p.Ile322Phe | |
| NM_001374693.1:c.964A>T | NP_001361622.1:p.Ile322Phe | |
| NM_001374695.1:c.925A>T | NP_001361624.1:p.Ile309Phe | |
| NM_007171.4:c.1381A>T | NP_009102.4:p.Ile461Phe | |
| NR_148391.2:n.1349A>T | ||
| NR_148392.2:n.1567A>T | ||
| NR_148393.2:n.1349A>T | ||
| NR_148394.2:n.1242A>T | ||
| NR_148395.2:n.1501A>T | ||
| NR_148396.2:n.1135A>T | ||
| NR_148397.2:n.1399A>T | ||
| NR_148398.2:n.1354A>T | ||
| NR_148399.2:n.1741A>T | ||
| NR_148400.2:n.1340A>T |