Linked Data
ClinVar Variation Id:
1343632
ClinVar RCV Id:
RCV001844649
dbSNP Id:
rs547373832
ExAC:
9:134397571 C / T
gnomAD v2:
9-134397571-C-T
gnomAD v3:
9-131522184-C-T
gnomAD v4:
9-131522184-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.131522184C>T , CM000671.2:g.131522184C>T | GRCh38 |
| NC_000009.11:g.134397571C>T , CM000671.1:g.134397571C>T | GRCh37 |
| NC_000009.10:g.133387392C>T | NCBI36 |
| NG_008896.1:g.24283C>T | |
| NG_008896.2:g.24283C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341012.13:c.1801C>T | ENSP00000343034.7:p.Leu601Phe | |
| ENST00000404875.7:n.2503C>T | ||
| ENST00000423007.6:c.2020C>T | ENSP00000404119.2:p.Leu674Phe | |
| ENST00000677295.2:c.*2307C>T | ENSP00000504346.2:n.*2307C>T | |
| ENST00000678264.2:c.*2146C>T | ENSP00000503157.2:n.*2146C>T | |
| ENST00000682070.1:n.2291-18C>T | ||
| ENST00000682813.1:n.2367C>T | ||
| ENST00000683392.1:n.4573-18C>T | ||
| ENST00000683712.1:n.2368C>T | ||
| ENST00000683900.1:n.3863C>T | ||
| ENST00000684062.1:n.2629C>T | ||
| ENST00000684579.1:n.3809C>T | ||
| ENST00000684679.1:n.1190C>T | ||
| ENST00000341012.12:c.1801C>T | ENSP00000343034.7:p.Leu601Phe | |
| ENST00000372220.5:c.832C>T | ENSP00000361294.5:p.Leu278Phe | |
| ENST00000372228.9:c.2029C>T | ENSP00000361302.3:p.Leu677Phe | |
| ENST00000402686.8:c.1963C>T MANE Select | ENSP00000385797.4:p.Leu655Phe | |
| ENST00000676640.1:c.1963C>T | ENSP00000503281.1:p.Leu655Phe | |
| ENST00000676803.1:c.1024C>T | ENSP00000503093.1:p.Leu342Phe | |
| ENST00000676835.1:c.*1178C>T | ENSP00000502911.1:n.*1178C>T | |
| ENST00000677029.1:c.1507C>T | ENSP00000502936.1:p.Leu503Phe | |
| ENST00000677099.1:c.*1673C>T | ENSP00000504553.1:n.*1673C>T | |
| ENST00000677216.1:c.1612C>T | ENSP00000503772.1:p.Leu538Phe | |
| ENST00000677221.1:n.988C>T | ||
| ENST00000677295.1:c.*1203-18C>T | ENSP00000504346.1:n.*1203-18C>T | |
| ENST00000677444.1:c.1908C>T | ||
| ENST00000677586.1:n.1330C>T | ||
| ENST00000677626.1:c.1612C>T | ENSP00000503552.1:p.Leu538Phe | |
| ENST00000677853.1:c.*971C>T | ENSP00000503488.1:n.*971C>T | |
| ENST00000678202.1:n.1122C>T | ||
| ENST00000678264.1:c.*1340C>T | ENSP00000503157.1:n.*1340C>T | |
| ENST00000678303.1:c.1873C>T | ENSP00000503696.1:p.Leu625Phe | |
| ENST00000678366.1:c.*2212C>T | ENSP00000504353.1:n.*2212C>T | |
| ENST00000678546.1:c.*1908C>T | ENSP00000503062.1:n.*1908C>T | |
| ENST00000678548.1:c.*2102C>T | ENSP00000503934.1:n.*2102C>T | |
| ENST00000678626.1:n.1799C>T | ||
| ENST00000678739.1:c.*2147-18C>T | ENSP00000503806.1:n.*2147-18C>T | |
| ENST00000678833.1:c.*1715C>T | ENSP00000503893.1:n.*1715C>T | |
| ENST00000679023.1:c.1801C>T | ENSP00000503718.1:p.Leu601Phe | |
| ENST00000679076.1:c.1582C>T | ||
| ENST00000679111.1:c.*719C>T | ENSP00000504257.1:n.*719C>T | |
| ENST00000679189.1:c.1612C>T | ENSP00000503356.1:p.Leu538Phe | |
| ENST00000341012.11:c.1801C>T | ENSP00000343034.7:p.Leu601Phe | |
| ENST00000372220.4:c.826C>T | ENSP00000361294.4:p.Leu276Phe | |
| ENST00000372228.7:c.2029C>T | ENSP00000361302.3:p.Leu677Phe | |
| ENST00000402686.7:c.1963C>T | ENSP00000385797.3:p.Leu655Phe | |
| ENST00000404875.6:c.1612C>T | ENSP00000384531.2:p.Leu538Phe | |
| ENST00000423007.5:c.1963C>T | ENSP00000404119.1:p.Leu655Phe | |
| ENST00000485278.5:n.2513C>T | ||
| ENST00000494883.1:n.506C>T | ||
| NM_001077365.1:c.1963C>T | NP_001070833.1:p.Leu655Phe | |
| NM_001077366.1:c.1801C>T | NP_001070834.1:p.Leu601Phe | |
| NM_001136113.1:c.1963C>T | NP_001129585.1:p.Leu655Phe | |
| NM_001136114.1:c.1612C>T | NP_001129586.1:p.Leu538Phe | |
| NM_007171.3:c.2029C>T | NP_009102.3:p.Leu677Phe | |
| XM_005272156.1:c.2029C>T | XP_005272213.1:p.Leu677Phe | |
| XM_005272158.1:c.1867C>T | XP_005272215.1:p.Leu623Phe | |
| XM_005272159.1:c.1678C>T | XP_005272216.1:p.Leu560Phe | |
| XM_005272162.1:c.832C>T | XP_005272219.1:p.Leu278Phe | |
| XM_006716932.1:c.1678C>T | XP_006716995.1:p.Leu560Phe | |
| XM_011518140.1:c.1882C>T | XP_011516442.1:p.Leu628Phe | |
| XM_011518141.1:c.1816C>T | XP_011516443.1:p.Leu606Phe | |
| XM_011518142.1:c.1720C>T | XP_011516444.1:p.Leu574Phe | |
| XM_011518143.1:c.1714C>T | XP_011516445.1:p.Leu572Phe | |
| XM_011518145.1:c.1573C>T | XP_011516447.1:p.Leu525Phe | |
| XM_011518147.1:c.901C>T | XP_011516449.1:p.Leu301Phe | |
| XR_929703.1:n.2205C>T | ||
| NM_001353193.1:c.2029C>T | NP_001340122.1:p.Leu677Phe | |
| NM_001353194.1:c.1801C>T | NP_001340123.1:p.Leu601Phe | |
| NM_001353195.1:c.1612C>T | NP_001340124.1:p.Leu538Phe | |
| NM_001353196.1:c.1873C>T | NP_001340125.1:p.Leu625Phe | |
| NM_001353197.1:c.1867C>T | NP_001340126.1:p.Leu623Phe | |
| NM_001353198.1:c.1867C>T | NP_001340127.1:p.Leu623Phe | |
| NM_001353199.1:c.1678C>T | NP_001340128.1:p.Leu560Phe | |
| NM_001353200.1:c.1507C>T | NP_001340129.1:p.Leu503Phe | |
| NR_148391.1:n.2013C>T | ||
| NR_148392.1:n.2231C>T | ||
| NR_148393.1:n.2152C>T | ||
| NR_148394.1:n.1906C>T | ||
| NR_148395.1:n.2304C>T | ||
| NR_148396.1:n.1938C>T | ||
| NR_148397.1:n.2063C>T | ||
| NR_148398.1:n.2018C>T | ||
| NR_148399.1:n.2544C>T | ||
| NR_148400.1:n.2143C>T | ||
| XM_005272162.3:c.832C>T | XP_005272219.1:p.Leu278Phe | |
| XM_006716932.2:c.1678C>T | XP_006716995.1:p.Leu560Phe | |
| XM_011518140.2:c.1882C>T | XP_011516442.1:p.Leu628Phe | |
| XM_011518141.2:c.1816C>T | XP_011516443.1:p.Leu606Phe | |
| XM_011518142.2:c.1720C>T | XP_011516444.1:p.Leu574Phe | |
| XM_011518143.2:c.1714C>T | XP_011516445.1:p.Leu572Phe | |
| XM_011518145.2:c.1573C>T | XP_011516447.1:p.Leu525Phe | |
| XM_017014205.2:c.832C>T | XP_016869694.1:p.Leu278Phe | |
| XM_024447380.1:c.832C>T | XP_024303148.1:p.Leu278Phe | |
| XM_024447381.1:c.1138C>T | XP_024303149.1:p.Leu380Phe | |
| XM_024447382.1:c.832C>T | XP_024303150.1:p.Leu278Phe | |
| XR_001746160.2:n.2133C>T | ||
| XR_001746162.2:n.2338C>T | ||
| XR_001746164.1:n.2055C>T | ||
| XR_001746166.2:n.2350C>T | ||
| NM_001077365.2:c.1963C>T MANE Select | NP_001070833.1:p.Leu655Phe | |
| NM_001077366.2:c.1801C>T | NP_001070834.1:p.Leu601Phe | |
| NM_001136113.2:c.1963C>T | NP_001129585.1:p.Leu655Phe | |
| NM_001136114.2:c.1612C>T | NP_001129586.1:p.Leu538Phe | |
| NM_001353193.2:c.2029C>T | NP_001340122.2:p.Leu677Phe | |
| NM_001353194.2:c.1801C>T | NP_001340123.1:p.Leu601Phe | |
| NM_001353195.2:c.1612C>T | NP_001340124.1:p.Leu538Phe | |
| NM_001353196.2:c.1873C>T | NP_001340125.1:p.Leu625Phe | |
| NM_001353197.2:c.1867C>T | NP_001340126.2:p.Leu623Phe | |
| NM_001353198.2:c.1867C>T | NP_001340127.2:p.Leu623Phe | |
| NM_001353199.2:c.1678C>T | NP_001340128.2:p.Leu560Phe | |
| NM_001353200.2:c.1507C>T | NP_001340129.1:p.Leu503Phe | |
| NM_001374689.1:c.1951C>T | NP_001361618.1:p.Leu651Phe | |
| NM_001374690.1:c.1744C>T | NP_001361619.1:p.Leu582Phe | |
| NM_001374691.1:c.1612C>T | NP_001361620.1:p.Leu538Phe | |
| NM_001374692.1:c.1612C>T | NP_001361621.1:p.Leu538Phe | |
| NM_001374693.1:c.1612C>T | NP_001361622.1:p.Leu538Phe | |
| NM_001374695.1:c.1573C>T | NP_001361624.1:p.Leu525Phe | |
| NM_007171.4:c.2029C>T | NP_009102.4:p.Leu677Phe | |
| NR_148391.2:n.1997C>T | ||
| NR_148392.2:n.2215C>T | ||
| NR_148393.2:n.2136C>T | ||
| NR_148394.2:n.1890C>T | ||
| NR_148395.2:n.2288C>T | ||
| NR_148396.2:n.1922C>T | ||
| NR_148397.2:n.2047C>T | ||
| NR_148398.2:n.2002C>T | ||
| NR_148399.2:n.2528C>T | ||
| NR_148400.2:n.2127C>T |