Linked Data
dbSNP Id:
rs778240416
ExAC:
9:134398486 A / G
gnomAD v2:
9-134398486-A-G
gnomAD v3:
9-131523099-A-G
gnomAD v4:
9-131523099-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.131523099A>G , CM000671.2:g.131523099A>G | GRCh38 |
| NC_000009.11:g.134398486A>G , CM000671.1:g.134398486A>G | GRCh37 |
| NC_000009.10:g.133388307A>G | NCBI36 |
| NG_008896.1:g.25198A>G | |
| NG_008896.2:g.25198A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341012.13:c.2009A>G | ENSP00000343034.7:p.Lys670Arg | |
| ENST00000404875.7:n.2711A>G | ||
| ENST00000423007.6:c.2228A>G | ENSP00000404119.2:p.Lys743Arg | |
| ENST00000677295.2:c.*2515A>G | ENSP00000504346.2:n.*2515A>G | |
| ENST00000678264.2:c.*2354A>G | ENSP00000503157.2:n.*2354A>G | |
| ENST00000682070.1:n.2481A>G | ||
| ENST00000682639.1:c.168A>G | ||
| ENST00000682813.1:n.2568A>G | ||
| ENST00000683231.1:c.168A>G | ||
| ENST00000683392.1:n.4763A>G | ||
| ENST00000683712.1:n.2576A>G | ||
| ENST00000683900.1:n.4071A>G | ||
| ENST00000684062.1:n.2837A>G | ||
| ENST00000684399.1:c.168A>G | ||
| ENST00000684579.1:n.4017A>G | ||
| ENST00000341012.12:c.2009A>G | ENSP00000343034.7:p.Lys670Arg | |
| ENST00000372220.5:c.1040A>G | ENSP00000361294.5:p.Lys347Arg | |
| ENST00000372228.9:c.2237A>G | ENSP00000361302.3:p.Lys746Arg | |
| ENST00000402686.8:c.2171A>G MANE Select | ENSP00000385797.4:p.Lys724Arg | |
| ENST00000676640.1:c.2171A>G | ENSP00000503281.1:p.Lys724Arg | |
| ENST00000676803.1:c.1232A>G | ENSP00000503093.1:p.Lys411Arg | |
| ENST00000676835.1:c.*1386A>G | ENSP00000502911.1:n.*1386A>G | |
| ENST00000677029.1:c.1715A>G | ENSP00000502936.1:p.Lys572Arg | |
| ENST00000677099.1:c.*1881A>G | ENSP00000504553.1:n.*1881A>G | |
| ENST00000677216.1:c.1820A>G | ENSP00000503772.1:p.Lys607Arg | |
| ENST00000677295.1:c.*1393A>G | ENSP00000504346.1:n.*1393A>G | |
| ENST00000677444.1:c.2116A>G | ||
| ENST00000677586.1:n.1538A>G | ||
| ENST00000677626.1:c.1820A>G | ENSP00000503552.1:p.Lys607Arg | |
| ENST00000677853.1:c.*1179A>G | ENSP00000503488.1:n.*1179A>G | |
| ENST00000678264.1:c.*1548A>G | ENSP00000503157.1:n.*1548A>G | |
| ENST00000678303.1:c.2081A>G | ENSP00000503696.1:p.Lys694Arg | |
| ENST00000678366.1:c.*2420A>G | ENSP00000504353.1:n.*2420A>G | |
| ENST00000678546.1:c.*2116A>G | ENSP00000503062.1:n.*2116A>G | |
| ENST00000678548.1:c.*2310A>G | ENSP00000503934.1:n.*2310A>G | |
| ENST00000678626.1:n.2007A>G | ||
| ENST00000678739.1:c.*2337A>G | ENSP00000503806.1:n.*2337A>G | |
| ENST00000678833.1:c.*1923A>G | ENSP00000503893.1:n.*1923A>G | |
| ENST00000679023.1:c.2009A>G | ENSP00000503718.1:p.Lys670Arg | |
| ENST00000679076.1:c.1790A>G | ||
| ENST00000679111.1:c.*927A>G | ENSP00000504257.1:n.*927A>G | |
| ENST00000679189.1:c.1820A>G | ENSP00000503356.1:p.Lys607Arg | |
| ENST00000341012.11:c.2009A>G | ENSP00000343034.7:p.Lys670Arg | |
| ENST00000372220.4:c.1034A>G | ENSP00000361294.4:p.Lys345Arg | |
| ENST00000372228.7:c.2237A>G | ENSP00000361302.3:p.Lys746Arg | |
| ENST00000402686.7:c.2171A>G | ENSP00000385797.3:p.Lys724Arg | |
| ENST00000404875.6:c.1820A>G | ENSP00000384531.2:p.Lys607Arg | |
| ENST00000423007.5:c.2171A>G | ENSP00000404119.1:p.Lys724Arg | |
| ENST00000485278.5:n.2721A>G | ||
| NM_001077365.1:c.2171A>G | NP_001070833.1:p.Lys724Arg | |
| NM_001077366.1:c.2009A>G | NP_001070834.1:p.Lys670Arg | |
| NM_001136113.1:c.2171A>G | NP_001129585.1:p.Lys724Arg | |
| NM_001136114.1:c.1820A>G | NP_001129586.1:p.Lys607Arg | |
| NM_007171.3:c.2237A>G | NP_009102.3:p.Lys746Arg | |
| XM_005272156.1:c.2237A>G | XP_005272213.1:p.Lys746Arg | |
| XM_005272158.1:c.2075A>G | XP_005272215.1:p.Lys692Arg | |
| XM_005272159.1:c.1886A>G | XP_005272216.1:p.Lys629Arg | |
| XM_005272162.1:c.1040A>G | XP_005272219.1:p.Lys347Arg | |
| XM_006716932.1:c.1886A>G | XP_006716995.1:p.Lys629Arg | |
| XM_011518140.1:c.2090A>G | XP_011516442.1:p.Lys697Arg | |
| XM_011518141.1:c.2024A>G | XP_011516443.1:p.Lys675Arg | |
| XM_011518142.1:c.1928A>G | XP_011516444.1:p.Lys643Arg | |
| XM_011518143.1:c.1922A>G | XP_011516445.1:p.Lys641Arg | |
| XM_011518145.1:c.1781A>G | XP_011516447.1:p.Lys594Arg | |
| XM_011518147.1:c.1109A>G | XP_011516449.1:p.Lys370Arg | |
| XR_929703.1:n.2413A>G | ||
| NM_001353193.1:c.2237A>G | NP_001340122.1:p.Lys746Arg | |
| NM_001353194.1:c.2009A>G | NP_001340123.1:p.Lys670Arg | |
| NM_001353195.1:c.1820A>G | NP_001340124.1:p.Lys607Arg | |
| NM_001353196.1:c.2081A>G | NP_001340125.1:p.Lys694Arg | |
| NM_001353197.1:c.2075A>G | NP_001340126.1:p.Lys692Arg | |
| NM_001353198.1:c.2075A>G | NP_001340127.1:p.Lys692Arg | |
| NM_001353199.1:c.1886A>G | NP_001340128.1:p.Lys629Arg | |
| NM_001353200.1:c.1715A>G | NP_001340129.1:p.Lys572Arg | |
| NR_148391.1:n.2221A>G | ||
| NR_148392.1:n.2439A>G | ||
| NR_148393.1:n.2360A>G | ||
| NR_148394.1:n.2114A>G | ||
| NR_148395.1:n.2512A>G | ||
| NR_148396.1:n.2146A>G | ||
| NR_148397.1:n.2271A>G | ||
| NR_148398.1:n.2226A>G | ||
| NR_148399.1:n.2752A>G | ||
| NR_148400.1:n.2351A>G | ||
| XM_005272162.3:c.1040A>G | XP_005272219.1:p.Lys347Arg | |
| XM_006716932.2:c.1886A>G | XP_006716995.1:p.Lys629Arg | |
| XM_011518140.2:c.2090A>G | XP_011516442.1:p.Lys697Arg | |
| XM_011518141.2:c.2024A>G | XP_011516443.1:p.Lys675Arg | |
| XM_011518142.2:c.1928A>G | XP_011516444.1:p.Lys643Arg | |
| XM_011518143.2:c.1922A>G | XP_011516445.1:p.Lys641Arg | |
| XM_011518145.2:c.1781A>G | XP_011516447.1:p.Lys594Arg | |
| XM_017014205.2:c.1040A>G | XP_016869694.1:p.Lys347Arg | |
| XM_024447380.1:c.1040A>G | XP_024303148.1:p.Lys347Arg | |
| XM_024447381.1:c.1346A>G | XP_024303149.1:p.Lys449Arg | |
| XM_024447382.1:c.1040A>G | XP_024303150.1:p.Lys347Arg | |
| XR_001746160.2:n.2341A>G | ||
| XR_001746162.2:n.2546A>G | ||
| XR_001746164.1:n.2263A>G | ||
| XR_001746166.2:n.2558A>G | ||
| NM_001077365.2:c.2171A>G MANE Select | NP_001070833.1:p.Lys724Arg | |
| NM_001077366.2:c.2009A>G | NP_001070834.1:p.Lys670Arg | |
| NM_001136113.2:c.2171A>G | NP_001129585.1:p.Lys724Arg | |
| NM_001136114.2:c.1820A>G | NP_001129586.1:p.Lys607Arg | |
| NM_001353193.2:c.2237A>G | NP_001340122.2:p.Lys746Arg | |
| NM_001353194.2:c.2009A>G | NP_001340123.1:p.Lys670Arg | |
| NM_001353195.2:c.1820A>G | NP_001340124.1:p.Lys607Arg | |
| NM_001353196.2:c.2081A>G | NP_001340125.1:p.Lys694Arg | |
| NM_001353197.2:c.2075A>G | NP_001340126.2:p.Lys692Arg | |
| NM_001353198.2:c.2075A>G | NP_001340127.2:p.Lys692Arg | |
| NM_001353199.2:c.1886A>G | NP_001340128.2:p.Lys629Arg | |
| NM_001353200.2:c.1715A>G | NP_001340129.1:p.Lys572Arg | |
| NM_001374689.1:c.2159A>G | NP_001361618.1:p.Lys720Arg | |
| NM_001374690.1:c.1952A>G | NP_001361619.1:p.Lys651Arg | |
| NM_001374691.1:c.1820A>G | NP_001361620.1:p.Lys607Arg | |
| NM_001374692.1:c.1820A>G | NP_001361621.1:p.Lys607Arg | |
| NM_001374693.1:c.1820A>G | NP_001361622.1:p.Lys607Arg | |
| NM_001374695.1:c.1781A>G | NP_001361624.1:p.Lys594Arg | |
| NM_007171.4:c.2237A>G | NP_009102.4:p.Lys746Arg | |
| NR_148391.2:n.2205A>G | ||
| NR_148392.2:n.2423A>G | ||
| NR_148393.2:n.2344A>G | ||
| NR_148394.2:n.2098A>G | ||
| NR_148395.2:n.2496A>G | ||
| NR_148396.2:n.2130A>G | ||
| NR_148397.2:n.2255A>G | ||
| NR_148398.2:n.2210A>G | ||
| NR_148399.2:n.2736A>G | ||
| NR_148400.2:n.2335A>G |