Linked Data
ClinVar Variation Id:
2157150
ClinVar RCV Id:
RCV003079512
dbSNP Id:
rs150209587
ExAC:
9:134398383 G / T
gnomAD v2:
9-134398383-G-T
gnomAD v4:
9-131522996-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.131522996G>T , CM000671.2:g.131522996G>T | GRCh38 |
| NC_000009.11:g.134398383G>T , CM000671.1:g.134398383G>T | GRCh37 |
| NC_000009.10:g.133388204G>T | NCBI36 |
| NG_008896.1:g.25095G>T | |
| NG_008896.2:g.25095G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341012.13:c.1906G>T | ENSP00000343034.7:p.Val636Leu | |
| ENST00000404875.7:n.2608G>T | ||
| ENST00000423007.6:c.2125G>T | ENSP00000404119.2:p.Val709Leu | |
| ENST00000677295.2:c.*2412G>T | ENSP00000504346.2:n.*2412G>T | |
| ENST00000678264.2:c.*2251G>T | ENSP00000503157.2:n.*2251G>T | |
| ENST00000682070.1:n.2378G>T | ||
| ENST00000682639.1:c.65G>T | ||
| ENST00000682813.1:n.2465G>T | ||
| ENST00000683231.1:c.65G>T | ||
| ENST00000683392.1:n.4660G>T | ||
| ENST00000683712.1:n.2473G>T | ||
| ENST00000683900.1:n.3968G>T | ||
| ENST00000684062.1:n.2734G>T | ||
| ENST00000684399.1:c.65G>T | ||
| ENST00000684579.1:n.3914G>T | ||
| ENST00000341012.12:c.1906G>T | ENSP00000343034.7:p.Val636Leu | |
| ENST00000372220.5:c.937G>T | ENSP00000361294.5:p.Val313Leu | |
| ENST00000372228.9:c.2134G>T | ENSP00000361302.3:p.Val712Leu | |
| ENST00000402686.8:c.2068G>T MANE Select | ENSP00000385797.4:p.Val690Leu | |
| ENST00000676640.1:c.2068G>T | ENSP00000503281.1:p.Val690Leu | |
| ENST00000676803.1:c.1129G>T | ENSP00000503093.1:p.Val377Leu | |
| ENST00000676835.1:c.*1283G>T | ENSP00000502911.1:n.*1283G>T | |
| ENST00000677029.1:c.1612G>T | ENSP00000502936.1:p.Val538Leu | |
| ENST00000677099.1:c.*1778G>T | ENSP00000504553.1:n.*1778G>T | |
| ENST00000677216.1:c.1717G>T | ENSP00000503772.1:p.Val573Leu | |
| ENST00000677221.1:n.1093G>T | ||
| ENST00000677295.1:c.*1290G>T | ENSP00000504346.1:n.*1290G>T | |
| ENST00000677444.1:c.2013G>T | ||
| ENST00000677586.1:n.1435G>T | ||
| ENST00000677626.1:c.1717G>T | ENSP00000503552.1:p.Val573Leu | |
| ENST00000677853.1:c.*1076G>T | ENSP00000503488.1:n.*1076G>T | |
| ENST00000678264.1:c.*1445G>T | ENSP00000503157.1:n.*1445G>T | |
| ENST00000678303.1:c.1978G>T | ENSP00000503696.1:p.Val660Leu | |
| ENST00000678366.1:c.*2317G>T | ENSP00000504353.1:n.*2317G>T | |
| ENST00000678546.1:c.*2013G>T | ENSP00000503062.1:n.*2013G>T | |
| ENST00000678548.1:c.*2207G>T | ENSP00000503934.1:n.*2207G>T | |
| ENST00000678626.1:n.1904G>T | ||
| ENST00000678739.1:c.*2234G>T | ENSP00000503806.1:n.*2234G>T | |
| ENST00000678833.1:c.*1820G>T | ENSP00000503893.1:n.*1820G>T | |
| ENST00000679023.1:c.1906G>T | ENSP00000503718.1:p.Val636Leu | |
| ENST00000679076.1:c.1687G>T | ||
| ENST00000679111.1:c.*824G>T | ENSP00000504257.1:n.*824G>T | |
| ENST00000679189.1:c.1717G>T | ENSP00000503356.1:p.Val573Leu | |
| ENST00000341012.11:c.1906G>T | ENSP00000343034.7:p.Val636Leu | |
| ENST00000372220.4:c.931G>T | ENSP00000361294.4:p.Val311Leu | |
| ENST00000372228.7:c.2134G>T | ENSP00000361302.3:p.Val712Leu | |
| ENST00000402686.7:c.2068G>T | ENSP00000385797.3:p.Val690Leu | |
| ENST00000404875.6:c.1717G>T | ENSP00000384531.2:p.Val573Leu | |
| ENST00000423007.5:c.2068G>T | ENSP00000404119.1:p.Val690Leu | |
| ENST00000485278.5:n.2618G>T | ||
| NM_001077365.1:c.2068G>T | NP_001070833.1:p.Val690Leu | |
| NM_001077366.1:c.1906G>T | NP_001070834.1:p.Val636Leu | |
| NM_001136113.1:c.2068G>T | NP_001129585.1:p.Val690Leu | |
| NM_001136114.1:c.1717G>T | NP_001129586.1:p.Val573Leu | |
| NM_007171.3:c.2134G>T | NP_009102.3:p.Val712Leu | |
| XM_005272156.1:c.2134G>T | XP_005272213.1:p.Val712Leu | |
| XM_005272158.1:c.1972G>T | XP_005272215.1:p.Val658Leu | |
| XM_005272159.1:c.1783G>T | XP_005272216.1:p.Val595Leu | |
| XM_005272162.1:c.937G>T | XP_005272219.1:p.Val313Leu | |
| XM_006716932.1:c.1783G>T | XP_006716995.1:p.Val595Leu | |
| XM_011518140.1:c.1987G>T | XP_011516442.1:p.Val663Leu | |
| XM_011518141.1:c.1921G>T | XP_011516443.1:p.Val641Leu | |
| XM_011518142.1:c.1825G>T | XP_011516444.1:p.Val609Leu | |
| XM_011518143.1:c.1819G>T | XP_011516445.1:p.Val607Leu | |
| XM_011518145.1:c.1678G>T | XP_011516447.1:p.Val560Leu | |
| XM_011518147.1:c.1006G>T | XP_011516449.1:p.Val336Leu | |
| XR_929703.1:n.2310G>T | ||
| NM_001353193.1:c.2134G>T | NP_001340122.1:p.Val712Leu | |
| NM_001353194.1:c.1906G>T | NP_001340123.1:p.Val636Leu | |
| NM_001353195.1:c.1717G>T | NP_001340124.1:p.Val573Leu | |
| NM_001353196.1:c.1978G>T | NP_001340125.1:p.Val660Leu | |
| NM_001353197.1:c.1972G>T | NP_001340126.1:p.Val658Leu | |
| NM_001353198.1:c.1972G>T | NP_001340127.1:p.Val658Leu | |
| NM_001353199.1:c.1783G>T | NP_001340128.1:p.Val595Leu | |
| NM_001353200.1:c.1612G>T | NP_001340129.1:p.Val538Leu | |
| NR_148391.1:n.2118G>T | ||
| NR_148392.1:n.2336G>T | ||
| NR_148393.1:n.2257G>T | ||
| NR_148394.1:n.2011G>T | ||
| NR_148395.1:n.2409G>T | ||
| NR_148396.1:n.2043G>T | ||
| NR_148397.1:n.2168G>T | ||
| NR_148398.1:n.2123G>T | ||
| NR_148399.1:n.2649G>T | ||
| NR_148400.1:n.2248G>T | ||
| XM_005272162.3:c.937G>T | XP_005272219.1:p.Val313Leu | |
| XM_006716932.2:c.1783G>T | XP_006716995.1:p.Val595Leu | |
| XM_011518140.2:c.1987G>T | XP_011516442.1:p.Val663Leu | |
| XM_011518141.2:c.1921G>T | XP_011516443.1:p.Val641Leu | |
| XM_011518142.2:c.1825G>T | XP_011516444.1:p.Val609Leu | |
| XM_011518143.2:c.1819G>T | XP_011516445.1:p.Val607Leu | |
| XM_011518145.2:c.1678G>T | XP_011516447.1:p.Val560Leu | |
| XM_017014205.2:c.937G>T | XP_016869694.1:p.Val313Leu | |
| XM_024447380.1:c.937G>T | XP_024303148.1:p.Val313Leu | |
| XM_024447381.1:c.1243G>T | XP_024303149.1:p.Val415Leu | |
| XM_024447382.1:c.937G>T | XP_024303150.1:p.Val313Leu | |
| XR_001746160.2:n.2238G>T | ||
| XR_001746162.2:n.2443G>T | ||
| XR_001746164.1:n.2160G>T | ||
| XR_001746166.2:n.2455G>T | ||
| NM_001077365.2:c.2068G>T MANE Select | NP_001070833.1:p.Val690Leu | |
| NM_001077366.2:c.1906G>T | NP_001070834.1:p.Val636Leu | |
| NM_001136113.2:c.2068G>T | NP_001129585.1:p.Val690Leu | |
| NM_001136114.2:c.1717G>T | NP_001129586.1:p.Val573Leu | |
| NM_001353193.2:c.2134G>T | NP_001340122.2:p.Val712Leu | |
| NM_001353194.2:c.1906G>T | NP_001340123.1:p.Val636Leu | |
| NM_001353195.2:c.1717G>T | NP_001340124.1:p.Val573Leu | |
| NM_001353196.2:c.1978G>T | NP_001340125.1:p.Val660Leu | |
| NM_001353197.2:c.1972G>T | NP_001340126.2:p.Val658Leu | |
| NM_001353198.2:c.1972G>T | NP_001340127.2:p.Val658Leu | |
| NM_001353199.2:c.1783G>T | NP_001340128.2:p.Val595Leu | |
| NM_001353200.2:c.1612G>T | NP_001340129.1:p.Val538Leu | |
| NM_001374689.1:c.2056G>T | NP_001361618.1:p.Val686Leu | |
| NM_001374690.1:c.1849G>T | NP_001361619.1:p.Val617Leu | |
| NM_001374691.1:c.1717G>T | NP_001361620.1:p.Val573Leu | |
| NM_001374692.1:c.1717G>T | NP_001361621.1:p.Val573Leu | |
| NM_001374693.1:c.1717G>T | NP_001361622.1:p.Val573Leu | |
| NM_001374695.1:c.1678G>T | NP_001361624.1:p.Val560Leu | |
| NM_007171.4:c.2134G>T | NP_009102.4:p.Val712Leu | |
| NR_148391.2:n.2102G>T | ||
| NR_148392.2:n.2320G>T | ||
| NR_148393.2:n.2241G>T | ||
| NR_148394.2:n.1995G>T | ||
| NR_148395.2:n.2393G>T | ||
| NR_148396.2:n.2027G>T | ||
| NR_148397.2:n.2152G>T | ||
| NR_148398.2:n.2107G>T | ||
| NR_148399.2:n.2633G>T | ||
| NR_148400.2:n.2232G>T |