Linked Data
ClinVar Variation Id:
1098277
dbSNP Id:
rs912556508
gnomAD v2:
9-134398413-G-A
gnomAD v3:
9-131523026-G-A
gnomAD v4:
9-131523026-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.131523026G>A , CM000671.2:g.131523026G>A | GRCh38 |
| NC_000009.11:g.134398413G>A , CM000671.1:g.134398413G>A | GRCh37 |
| NC_000009.10:g.133388234G>A | NCBI36 |
| NG_008896.1:g.25125G>A | |
| NG_008896.2:g.25125G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341012.13:c.1936G>A | ENSP00000343034.7:p.Gly646Arg | |
| ENST00000404875.7:n.2638G>A | ||
| ENST00000423007.6:c.2155G>A | ENSP00000404119.2:p.Gly719Arg | |
| ENST00000677295.2:c.*2442G>A | ENSP00000504346.2:n.*2442G>A | |
| ENST00000678264.2:c.*2281G>A | ENSP00000503157.2:n.*2281G>A | |
| ENST00000682070.1:n.2408G>A | ||
| ENST00000682639.1:c.95G>A | ||
| ENST00000682813.1:n.2495G>A | ||
| ENST00000683231.1:c.95G>A | ||
| ENST00000683392.1:n.4690G>A | ||
| ENST00000683712.1:n.2503G>A | ||
| ENST00000683900.1:n.3998G>A | ||
| ENST00000684062.1:n.2764G>A | ||
| ENST00000684399.1:c.95G>A | ||
| ENST00000684579.1:n.3944G>A | ||
| ENST00000341012.12:c.1936G>A | ENSP00000343034.7:p.Gly646Arg | |
| ENST00000372220.5:c.967G>A | ENSP00000361294.5:p.Gly323Arg | |
| ENST00000372228.9:c.2164G>A | ENSP00000361302.3:p.Gly722Arg | |
| ENST00000402686.8:c.2098G>A MANE Select | ENSP00000385797.4:p.Gly700Arg | |
| ENST00000676640.1:c.2098G>A | ENSP00000503281.1:p.Gly700Arg | |
| ENST00000676803.1:c.1159G>A | ENSP00000503093.1:p.Gly387Arg | |
| ENST00000676835.1:c.*1313G>A | ENSP00000502911.1:n.*1313G>A | |
| ENST00000677029.1:c.1642G>A | ENSP00000502936.1:p.Gly548Arg | |
| ENST00000677099.1:c.*1808G>A | ENSP00000504553.1:n.*1808G>A | |
| ENST00000677216.1:c.1747G>A | ENSP00000503772.1:p.Gly583Arg | |
| ENST00000677295.1:c.*1320G>A | ENSP00000504346.1:n.*1320G>A | |
| ENST00000677444.1:c.2043G>A | ||
| ENST00000677586.1:n.1465G>A | ||
| ENST00000677626.1:c.1747G>A | ENSP00000503552.1:p.Gly583Arg | |
| ENST00000677853.1:c.*1106G>A | ENSP00000503488.1:n.*1106G>A | |
| ENST00000678264.1:c.*1475G>A | ENSP00000503157.1:n.*1475G>A | |
| ENST00000678303.1:c.2008G>A | ENSP00000503696.1:p.Gly670Arg | |
| ENST00000678366.1:c.*2347G>A | ENSP00000504353.1:n.*2347G>A | |
| ENST00000678546.1:c.*2043G>A | ENSP00000503062.1:n.*2043G>A | |
| ENST00000678548.1:c.*2237G>A | ENSP00000503934.1:n.*2237G>A | |
| ENST00000678626.1:n.1934G>A | ||
| ENST00000678739.1:c.*2264G>A | ENSP00000503806.1:n.*2264G>A | |
| ENST00000678833.1:c.*1850G>A | ENSP00000503893.1:n.*1850G>A | |
| ENST00000679023.1:c.1936G>A | ENSP00000503718.1:p.Gly646Arg | |
| ENST00000679076.1:c.1717G>A | ||
| ENST00000679111.1:c.*854G>A | ENSP00000504257.1:n.*854G>A | |
| ENST00000679189.1:c.1747G>A | ENSP00000503356.1:p.Gly583Arg | |
| ENST00000341012.11:c.1936G>A | ENSP00000343034.7:p.Gly646Arg | |
| ENST00000372220.4:c.961G>A | ENSP00000361294.4:p.Gly321Arg | |
| ENST00000372228.7:c.2164G>A | ENSP00000361302.3:p.Gly722Arg | |
| ENST00000402686.7:c.2098G>A | ENSP00000385797.3:p.Gly700Arg | |
| ENST00000404875.6:c.1747G>A | ENSP00000384531.2:p.Gly583Arg | |
| ENST00000423007.5:c.2098G>A | ENSP00000404119.1:p.Gly700Arg | |
| ENST00000485278.5:n.2648G>A | ||
| NM_001077365.1:c.2098G>A | NP_001070833.1:p.Gly700Arg | |
| NM_001077366.1:c.1936G>A | NP_001070834.1:p.Gly646Arg | |
| NM_001136113.1:c.2098G>A | NP_001129585.1:p.Gly700Arg | |
| NM_001136114.1:c.1747G>A | NP_001129586.1:p.Gly583Arg | |
| NM_007171.3:c.2164G>A | NP_009102.3:p.Gly722Arg | |
| XM_005272156.1:c.2164G>A | XP_005272213.1:p.Gly722Arg | |
| XM_005272158.1:c.2002G>A | XP_005272215.1:p.Gly668Arg | |
| XM_005272159.1:c.1813G>A | XP_005272216.1:p.Gly605Arg | |
| XM_005272162.1:c.967G>A | XP_005272219.1:p.Gly323Arg | |
| XM_006716932.1:c.1813G>A | XP_006716995.1:p.Gly605Arg | |
| XM_011518140.1:c.2017G>A | XP_011516442.1:p.Gly673Arg | |
| XM_011518141.1:c.1951G>A | XP_011516443.1:p.Gly651Arg | |
| XM_011518142.1:c.1855G>A | XP_011516444.1:p.Gly619Arg | |
| XM_011518143.1:c.1849G>A | XP_011516445.1:p.Gly617Arg | |
| XM_011518145.1:c.1708G>A | XP_011516447.1:p.Gly570Arg | |
| XM_011518147.1:c.1036G>A | XP_011516449.1:p.Gly346Arg | |
| XR_929703.1:n.2340G>A | ||
| NM_001353193.1:c.2164G>A | NP_001340122.1:p.Gly722Arg | |
| NM_001353194.1:c.1936G>A | NP_001340123.1:p.Gly646Arg | |
| NM_001353195.1:c.1747G>A | NP_001340124.1:p.Gly583Arg | |
| NM_001353196.1:c.2008G>A | NP_001340125.1:p.Gly670Arg | |
| NM_001353197.1:c.2002G>A | NP_001340126.1:p.Gly668Arg | |
| NM_001353198.1:c.2002G>A | NP_001340127.1:p.Gly668Arg | |
| NM_001353199.1:c.1813G>A | NP_001340128.1:p.Gly605Arg | |
| NM_001353200.1:c.1642G>A | NP_001340129.1:p.Gly548Arg | |
| NR_148391.1:n.2148G>A | ||
| NR_148392.1:n.2366G>A | ||
| NR_148393.1:n.2287G>A | ||
| NR_148394.1:n.2041G>A | ||
| NR_148395.1:n.2439G>A | ||
| NR_148396.1:n.2073G>A | ||
| NR_148397.1:n.2198G>A | ||
| NR_148398.1:n.2153G>A | ||
| NR_148399.1:n.2679G>A | ||
| NR_148400.1:n.2278G>A | ||
| XM_005272162.3:c.967G>A | XP_005272219.1:p.Gly323Arg | |
| XM_006716932.2:c.1813G>A | XP_006716995.1:p.Gly605Arg | |
| XM_011518140.2:c.2017G>A | XP_011516442.1:p.Gly673Arg | |
| XM_011518141.2:c.1951G>A | XP_011516443.1:p.Gly651Arg | |
| XM_011518142.2:c.1855G>A | XP_011516444.1:p.Gly619Arg | |
| XM_011518143.2:c.1849G>A | XP_011516445.1:p.Gly617Arg | |
| XM_011518145.2:c.1708G>A | XP_011516447.1:p.Gly570Arg | |
| XM_017014205.2:c.967G>A | XP_016869694.1:p.Gly323Arg | |
| XM_024447380.1:c.967G>A | XP_024303148.1:p.Gly323Arg | |
| XM_024447381.1:c.1273G>A | XP_024303149.1:p.Gly425Arg | |
| XM_024447382.1:c.967G>A | XP_024303150.1:p.Gly323Arg | |
| XR_001746160.2:n.2268G>A | ||
| XR_001746162.2:n.2473G>A | ||
| XR_001746164.1:n.2190G>A | ||
| XR_001746166.2:n.2485G>A | ||
| NM_001077365.2:c.2098G>A MANE Select | NP_001070833.1:p.Gly700Arg | |
| NM_001077366.2:c.1936G>A | NP_001070834.1:p.Gly646Arg | |
| NM_001136113.2:c.2098G>A | NP_001129585.1:p.Gly700Arg | |
| NM_001136114.2:c.1747G>A | NP_001129586.1:p.Gly583Arg | |
| NM_001353193.2:c.2164G>A | NP_001340122.2:p.Gly722Arg | |
| NM_001353194.2:c.1936G>A | NP_001340123.1:p.Gly646Arg | |
| NM_001353195.2:c.1747G>A | NP_001340124.1:p.Gly583Arg | |
| NM_001353196.2:c.2008G>A | NP_001340125.1:p.Gly670Arg | |
| NM_001353197.2:c.2002G>A | NP_001340126.2:p.Gly668Arg | |
| NM_001353198.2:c.2002G>A | NP_001340127.2:p.Gly668Arg | |
| NM_001353199.2:c.1813G>A | NP_001340128.2:p.Gly605Arg | |
| NM_001353200.2:c.1642G>A | NP_001340129.1:p.Gly548Arg | |
| NM_001374689.1:c.2086G>A | NP_001361618.1:p.Gly696Arg | |
| NM_001374690.1:c.1879G>A | NP_001361619.1:p.Gly627Arg | |
| NM_001374691.1:c.1747G>A | NP_001361620.1:p.Gly583Arg | |
| NM_001374692.1:c.1747G>A | NP_001361621.1:p.Gly583Arg | |
| NM_001374693.1:c.1747G>A | NP_001361622.1:p.Gly583Arg | |
| NM_001374695.1:c.1708G>A | NP_001361624.1:p.Gly570Arg | |
| NM_007171.4:c.2164G>A | NP_009102.4:p.Gly722Arg | |
| NR_148391.2:n.2132G>A | ||
| NR_148392.2:n.2350G>A | ||
| NR_148393.2:n.2271G>A | ||
| NR_148394.2:n.2025G>A | ||
| NR_148395.2:n.2423G>A | ||
| NR_148396.2:n.2057G>A | ||
| NR_148397.2:n.2182G>A | ||
| NR_148398.2:n.2137G>A | ||
| NR_148399.2:n.2663G>A | ||
| NR_148400.2:n.2262G>A |