Linked Data
dbSNP Id:
rs751017875
ExAC:
9:134397604 C / G
gnomAD v2:
9-134397604-C-G
gnomAD v4:
9-131522217-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.131522217C>G , CM000671.2:g.131522217C>G | GRCh38 |
| NC_000009.11:g.134397604C>G , CM000671.1:g.134397604C>G | GRCh37 |
| NC_000009.10:g.133387425C>G | NCBI36 |
| NG_008896.1:g.24316C>G | |
| NG_008896.2:g.24316C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341012.13:c.1834C>G | ENSP00000343034.7:p.Leu612Val | |
| ENST00000404875.7:n.2536C>G | ||
| ENST00000423007.6:c.2053C>G | ENSP00000404119.2:p.Leu685Val | |
| ENST00000677295.2:c.*2340C>G | ENSP00000504346.2:n.*2340C>G | |
| ENST00000678264.2:c.*2179C>G | ENSP00000503157.2:n.*2179C>G | |
| ENST00000682070.1:n.2306C>G | ||
| ENST00000682813.1:n.2400C>G | ||
| ENST00000683392.1:n.4588C>G | ||
| ENST00000683712.1:n.2401C>G | ||
| ENST00000683900.1:n.3896C>G | ||
| ENST00000684062.1:n.2662C>G | ||
| ENST00000684579.1:n.3842C>G | ||
| ENST00000341012.12:c.1834C>G | ENSP00000343034.7:p.Leu612Val | |
| ENST00000372220.5:c.865C>G | ENSP00000361294.5:p.Leu289Val | |
| ENST00000372228.9:c.2062C>G | ENSP00000361302.3:p.Leu688Val | |
| ENST00000402686.8:c.1996C>G MANE Select | ENSP00000385797.4:p.Leu666Val | |
| ENST00000676640.1:c.1996C>G | ENSP00000503281.1:p.Leu666Val | |
| ENST00000676803.1:c.1057C>G | ENSP00000503093.1:p.Leu353Val | |
| ENST00000676835.1:c.*1211C>G | ENSP00000502911.1:n.*1211C>G | |
| ENST00000677029.1:c.1540C>G | ENSP00000502936.1:p.Leu514Val | |
| ENST00000677099.1:c.*1706C>G | ENSP00000504553.1:n.*1706C>G | |
| ENST00000677216.1:c.1645C>G | ENSP00000503772.1:p.Leu549Val | |
| ENST00000677221.1:n.1021C>G | ||
| ENST00000677295.1:c.*1218C>G | ENSP00000504346.1:n.*1218C>G | |
| ENST00000677444.1:c.1941C>G | ||
| ENST00000677586.1:n.1363C>G | ||
| ENST00000677626.1:c.1645C>G | ENSP00000503552.1:p.Leu549Val | |
| ENST00000677853.1:c.*1004C>G | ENSP00000503488.1:n.*1004C>G | |
| ENST00000678264.1:c.*1373C>G | ENSP00000503157.1:n.*1373C>G | |
| ENST00000678303.1:c.1906C>G | ENSP00000503696.1:p.Leu636Val | |
| ENST00000678366.1:c.*2245C>G | ENSP00000504353.1:n.*2245C>G | |
| ENST00000678546.1:c.*1941C>G | ENSP00000503062.1:n.*1941C>G | |
| ENST00000678548.1:c.*2135C>G | ENSP00000503934.1:n.*2135C>G | |
| ENST00000678626.1:n.1832C>G | ||
| ENST00000678739.1:c.*2162C>G | ENSP00000503806.1:n.*2162C>G | |
| ENST00000678833.1:c.*1748C>G | ENSP00000503893.1:n.*1748C>G | |
| ENST00000679023.1:c.1834C>G | ENSP00000503718.1:p.Leu612Val | |
| ENST00000679076.1:c.1615C>G | ||
| ENST00000679111.1:c.*752C>G | ENSP00000504257.1:n.*752C>G | |
| ENST00000679189.1:c.1645C>G | ENSP00000503356.1:p.Leu549Val | |
| ENST00000341012.11:c.1834C>G | ENSP00000343034.7:p.Leu612Val | |
| ENST00000372220.4:c.859C>G | ENSP00000361294.4:p.Leu287Val | |
| ENST00000372228.7:c.2062C>G | ENSP00000361302.3:p.Leu688Val | |
| ENST00000402686.7:c.1996C>G | ENSP00000385797.3:p.Leu666Val | |
| ENST00000404875.6:c.1645C>G | ENSP00000384531.2:p.Leu549Val | |
| ENST00000423007.5:c.1996C>G | ENSP00000404119.1:p.Leu666Val | |
| ENST00000485278.5:n.2546C>G | ||
| ENST00000494883.1:n.539C>G | ||
| NM_001077365.1:c.1996C>G | NP_001070833.1:p.Leu666Val | |
| NM_001077366.1:c.1834C>G | NP_001070834.1:p.Leu612Val | |
| NM_001136113.1:c.1996C>G | NP_001129585.1:p.Leu666Val | |
| NM_001136114.1:c.1645C>G | NP_001129586.1:p.Leu549Val | |
| NM_007171.3:c.2062C>G | NP_009102.3:p.Leu688Val | |
| XM_005272156.1:c.2062C>G | XP_005272213.1:p.Leu688Val | |
| XM_005272158.1:c.1900C>G | XP_005272215.1:p.Leu634Val | |
| XM_005272159.1:c.1711C>G | XP_005272216.1:p.Leu571Val | |
| XM_005272162.1:c.865C>G | XP_005272219.1:p.Leu289Val | |
| XM_006716932.1:c.1711C>G | XP_006716995.1:p.Leu571Val | |
| XM_011518140.1:c.1915C>G | XP_011516442.1:p.Leu639Val | |
| XM_011518141.1:c.1849C>G | XP_011516443.1:p.Leu617Val | |
| XM_011518142.1:c.1753C>G | XP_011516444.1:p.Leu585Val | |
| XM_011518143.1:c.1747C>G | XP_011516445.1:p.Leu583Val | |
| XM_011518145.1:c.1606C>G | XP_011516447.1:p.Leu536Val | |
| XM_011518147.1:c.934C>G | XP_011516449.1:p.Leu312Val | |
| XR_929703.1:n.2238C>G | ||
| NM_001353193.1:c.2062C>G | NP_001340122.1:p.Leu688Val | |
| NM_001353194.1:c.1834C>G | NP_001340123.1:p.Leu612Val | |
| NM_001353195.1:c.1645C>G | NP_001340124.1:p.Leu549Val | |
| NM_001353196.1:c.1906C>G | NP_001340125.1:p.Leu636Val | |
| NM_001353197.1:c.1900C>G | NP_001340126.1:p.Leu634Val | |
| NM_001353198.1:c.1900C>G | NP_001340127.1:p.Leu634Val | |
| NM_001353199.1:c.1711C>G | NP_001340128.1:p.Leu571Val | |
| NM_001353200.1:c.1540C>G | NP_001340129.1:p.Leu514Val | |
| NR_148391.1:n.2046C>G | ||
| NR_148392.1:n.2264C>G | ||
| NR_148393.1:n.2185C>G | ||
| NR_148394.1:n.1939C>G | ||
| NR_148395.1:n.2337C>G | ||
| NR_148396.1:n.1971C>G | ||
| NR_148397.1:n.2096C>G | ||
| NR_148398.1:n.2051C>G | ||
| NR_148399.1:n.2577C>G | ||
| NR_148400.1:n.2176C>G | ||
| XM_005272162.3:c.865C>G | XP_005272219.1:p.Leu289Val | |
| XM_006716932.2:c.1711C>G | XP_006716995.1:p.Leu571Val | |
| XM_011518140.2:c.1915C>G | XP_011516442.1:p.Leu639Val | |
| XM_011518141.2:c.1849C>G | XP_011516443.1:p.Leu617Val | |
| XM_011518142.2:c.1753C>G | XP_011516444.1:p.Leu585Val | |
| XM_011518143.2:c.1747C>G | XP_011516445.1:p.Leu583Val | |
| XM_011518145.2:c.1606C>G | XP_011516447.1:p.Leu536Val | |
| XM_017014205.2:c.865C>G | XP_016869694.1:p.Leu289Val | |
| XM_024447380.1:c.865C>G | XP_024303148.1:p.Leu289Val | |
| XM_024447381.1:c.1171C>G | XP_024303149.1:p.Leu391Val | |
| XM_024447382.1:c.865C>G | XP_024303150.1:p.Leu289Val | |
| XR_001746160.2:n.2166C>G | ||
| XR_001746162.2:n.2371C>G | ||
| XR_001746164.1:n.2088C>G | ||
| XR_001746166.2:n.2383C>G | ||
| NM_001077365.2:c.1996C>G MANE Select | NP_001070833.1:p.Leu666Val | |
| NM_001077366.2:c.1834C>G | NP_001070834.1:p.Leu612Val | |
| NM_001136113.2:c.1996C>G | NP_001129585.1:p.Leu666Val | |
| NM_001136114.2:c.1645C>G | NP_001129586.1:p.Leu549Val | |
| NM_001353193.2:c.2062C>G | NP_001340122.2:p.Leu688Val | |
| NM_001353194.2:c.1834C>G | NP_001340123.1:p.Leu612Val | |
| NM_001353195.2:c.1645C>G | NP_001340124.1:p.Leu549Val | |
| NM_001353196.2:c.1906C>G | NP_001340125.1:p.Leu636Val | |
| NM_001353197.2:c.1900C>G | NP_001340126.2:p.Leu634Val | |
| NM_001353198.2:c.1900C>G | NP_001340127.2:p.Leu634Val | |
| NM_001353199.2:c.1711C>G | NP_001340128.2:p.Leu571Val | |
| NM_001353200.2:c.1540C>G | NP_001340129.1:p.Leu514Val | |
| NM_001374689.1:c.1984C>G | NP_001361618.1:p.Leu662Val | |
| NM_001374690.1:c.1777C>G | NP_001361619.1:p.Leu593Val | |
| NM_001374691.1:c.1645C>G | NP_001361620.1:p.Leu549Val | |
| NM_001374692.1:c.1645C>G | NP_001361621.1:p.Leu549Val | |
| NM_001374693.1:c.1645C>G | NP_001361622.1:p.Leu549Val | |
| NM_001374695.1:c.1606C>G | NP_001361624.1:p.Leu536Val | |
| NM_007171.4:c.2062C>G | NP_009102.4:p.Leu688Val | |
| NR_148391.2:n.2030C>G | ||
| NR_148392.2:n.2248C>G | ||
| NR_148393.2:n.2169C>G | ||
| NR_148394.2:n.1923C>G | ||
| NR_148395.2:n.2321C>G | ||
| NR_148396.2:n.1955C>G | ||
| NR_148397.2:n.2080C>G | ||
| NR_148398.2:n.2035C>G | ||
| NR_148399.2:n.2561C>G | ||
| NR_148400.2:n.2160C>G |