Linked Data
ClinVar Variation Id:
1984903
ClinVar RCV Id:
RCV002756931
dbSNP Id:
rs1564394052
gnomAD v4:
9-131522947-G-A
MyVariant Identifiers:
chr9:g.134398334G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.131522947G>A , CM000671.2:g.131522947G>A | GRCh38 |
| NC_000009.11:g.134398334G>A , CM000671.1:g.134398334G>A | GRCh37 |
| NC_000009.10:g.133388155G>A | NCBI36 |
| NG_008896.1:g.25046G>A | |
| NG_008896.2:g.25046G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341012.13:c.1857G>A | ENSP00000343034.7:p.Arg619= | |
| ENST00000404875.7:n.2559G>A | ||
| ENST00000423007.6:c.2076G>A | ENSP00000404119.2:p.Arg692= | |
| ENST00000677295.2:c.*2363G>A | ENSP00000504346.2:n.*2363G>A | |
| ENST00000678264.2:c.*2202G>A | ENSP00000503157.2:n.*2202G>A | |
| ENST00000682070.1:n.2329G>A | ||
| ENST00000682639.1:c.16G>A | ||
| ENST00000682813.1:n.2416G>A | ||
| ENST00000683231.1:c.16G>A | ||
| ENST00000683392.1:n.4611G>A | ||
| ENST00000683712.1:n.2424G>A | ||
| ENST00000683900.1:n.3919G>A | ||
| ENST00000684062.1:n.2685G>A | ||
| ENST00000684399.1:c.16G>A | ||
| ENST00000684579.1:n.3865G>A | ||
| ENST00000341012.12:c.1857G>A | ENSP00000343034.7:p.Arg619= | |
| ENST00000372220.5:c.888G>A | ENSP00000361294.5:p.Arg296= | |
| ENST00000372228.9:c.2085G>A | ENSP00000361302.3:p.Arg695= | |
| ENST00000402686.8:c.2019G>A MANE Select | ENSP00000385797.4:p.Arg673= | |
| ENST00000676640.1:c.2019G>A | ENSP00000503281.1:p.Arg673= | |
| ENST00000676803.1:c.1080G>A | ENSP00000503093.1:p.Arg360= | |
| ENST00000676835.1:c.*1234G>A | ENSP00000502911.1:n.*1234G>A | |
| ENST00000677029.1:c.1563G>A | ENSP00000502936.1:p.Arg521= | |
| ENST00000677099.1:c.*1729G>A | ENSP00000504553.1:n.*1729G>A | |
| ENST00000677216.1:c.1668G>A | ENSP00000503772.1:p.Arg556= | |
| ENST00000677221.1:n.1044G>A | ||
| ENST00000677295.1:c.*1241G>A | ENSP00000504346.1:n.*1241G>A | |
| ENST00000677444.1:c.1964G>A | ||
| ENST00000677586.1:n.1386G>A | ||
| ENST00000677626.1:c.1668G>A | ENSP00000503552.1:p.Arg556= | |
| ENST00000677853.1:c.*1027G>A | ENSP00000503488.1:n.*1027G>A | |
| ENST00000678264.1:c.*1396G>A | ENSP00000503157.1:n.*1396G>A | |
| ENST00000678303.1:c.1929G>A | ENSP00000503696.1:p.Arg643= | |
| ENST00000678366.1:c.*2268G>A | ENSP00000504353.1:n.*2268G>A | |
| ENST00000678546.1:c.*1964G>A | ENSP00000503062.1:n.*1964G>A | |
| ENST00000678548.1:c.*2158G>A | ENSP00000503934.1:n.*2158G>A | |
| ENST00000678626.1:n.1855G>A | ||
| ENST00000678739.1:c.*2185G>A | ENSP00000503806.1:n.*2185G>A | |
| ENST00000678833.1:c.*1771G>A | ENSP00000503893.1:n.*1771G>A | |
| ENST00000679023.1:c.1857G>A | ENSP00000503718.1:p.Arg619= | |
| ENST00000679076.1:c.1638G>A | ||
| ENST00000679111.1:c.*775G>A | ENSP00000504257.1:n.*775G>A | |
| ENST00000679189.1:c.1668G>A | ENSP00000503356.1:p.Arg556= | |
| ENST00000341012.11:c.1857G>A | ENSP00000343034.7:p.Arg619= | |
| ENST00000372220.4:c.882G>A | ENSP00000361294.4:p.Arg294= | |
| ENST00000372228.7:c.2085G>A | ENSP00000361302.3:p.Arg695= | |
| ENST00000402686.7:c.2019G>A | ENSP00000385797.3:p.Arg673= | |
| ENST00000404875.6:c.1668G>A | ENSP00000384531.2:p.Arg556= | |
| ENST00000423007.5:c.2019G>A | ENSP00000404119.1:p.Arg673= | |
| ENST00000485278.5:n.2569G>A | ||
| NM_001077365.1:c.2019G>A | NP_001070833.1:p.Arg673= | |
| NM_001077366.1:c.1857G>A | NP_001070834.1:p.Arg619= | |
| NM_001136113.1:c.2019G>A | NP_001129585.1:p.Arg673= | |
| NM_001136114.1:c.1668G>A | NP_001129586.1:p.Arg556= | |
| NM_007171.3:c.2085G>A | NP_009102.3:p.Arg695= | |
| XM_005272156.1:c.2085G>A | XP_005272213.1:p.Arg695= | |
| XM_005272158.1:c.1923G>A | XP_005272215.1:p.Arg641= | |
| XM_005272159.1:c.1734G>A | XP_005272216.1:p.Arg578= | |
| XM_005272162.1:c.888G>A | XP_005272219.1:p.Arg296= | |
| XM_006716932.1:c.1734G>A | XP_006716995.1:p.Arg578= | |
| XM_011518140.1:c.1938G>A | XP_011516442.1:p.Arg646= | |
| XM_011518141.1:c.1872G>A | XP_011516443.1:p.Arg624= | |
| XM_011518142.1:c.1776G>A | XP_011516444.1:p.Arg592= | |
| XM_011518143.1:c.1770G>A | XP_011516445.1:p.Arg590= | |
| XM_011518145.1:c.1629G>A | XP_011516447.1:p.Arg543= | |
| XM_011518147.1:c.957G>A | XP_011516449.1:p.Arg319= | |
| XR_929703.1:n.2261G>A | ||
| NM_001353193.1:c.2085G>A | NP_001340122.1:p.Arg695= | |
| NM_001353194.1:c.1857G>A | NP_001340123.1:p.Arg619= | |
| NM_001353195.1:c.1668G>A | NP_001340124.1:p.Arg556= | |
| NM_001353196.1:c.1929G>A | NP_001340125.1:p.Arg643= | |
| NM_001353197.1:c.1923G>A | NP_001340126.1:p.Arg641= | |
| NM_001353198.1:c.1923G>A | NP_001340127.1:p.Arg641= | |
| NM_001353199.1:c.1734G>A | NP_001340128.1:p.Arg578= | |
| NM_001353200.1:c.1563G>A | NP_001340129.1:p.Arg521= | |
| NR_148391.1:n.2069G>A | ||
| NR_148392.1:n.2287G>A | ||
| NR_148393.1:n.2208G>A | ||
| NR_148394.1:n.1962G>A | ||
| NR_148395.1:n.2360G>A | ||
| NR_148396.1:n.1994G>A | ||
| NR_148397.1:n.2119G>A | ||
| NR_148398.1:n.2074G>A | ||
| NR_148399.1:n.2600G>A | ||
| NR_148400.1:n.2199G>A | ||
| XM_005272162.3:c.888G>A | XP_005272219.1:p.Arg296= | |
| XM_006716932.2:c.1734G>A | XP_006716995.1:p.Arg578= | |
| XM_011518140.2:c.1938G>A | XP_011516442.1:p.Arg646= | |
| XM_011518141.2:c.1872G>A | XP_011516443.1:p.Arg624= | |
| XM_011518142.2:c.1776G>A | XP_011516444.1:p.Arg592= | |
| XM_011518143.2:c.1770G>A | XP_011516445.1:p.Arg590= | |
| XM_011518145.2:c.1629G>A | XP_011516447.1:p.Arg543= | |
| XM_017014205.2:c.888G>A | XP_016869694.1:p.Arg296= | |
| XM_024447380.1:c.888G>A | XP_024303148.1:p.Arg296= | |
| XM_024447381.1:c.1194G>A | XP_024303149.1:p.Arg398= | |
| XM_024447382.1:c.888G>A | XP_024303150.1:p.Arg296= | |
| XR_001746160.2:n.2189G>A | ||
| XR_001746162.2:n.2394G>A | ||
| XR_001746164.1:n.2111G>A | ||
| XR_001746166.2:n.2406G>A | ||
| NM_001077365.2:c.2019G>A MANE Select | NP_001070833.1:p.Arg673= | |
| NM_001077366.2:c.1857G>A | NP_001070834.1:p.Arg619= | |
| NM_001136113.2:c.2019G>A | NP_001129585.1:p.Arg673= | |
| NM_001136114.2:c.1668G>A | NP_001129586.1:p.Arg556= | |
| NM_001353193.2:c.2085G>A | NP_001340122.2:p.Arg695= | |
| NM_001353194.2:c.1857G>A | NP_001340123.1:p.Arg619= | |
| NM_001353195.2:c.1668G>A | NP_001340124.1:p.Arg556= | |
| NM_001353196.2:c.1929G>A | NP_001340125.1:p.Arg643= | |
| NM_001353197.2:c.1923G>A | NP_001340126.2:p.Arg641= | |
| NM_001353198.2:c.1923G>A | NP_001340127.2:p.Arg641= | |
| NM_001353199.2:c.1734G>A | NP_001340128.2:p.Arg578= | |
| NM_001353200.2:c.1563G>A | NP_001340129.1:p.Arg521= | |
| NM_001374689.1:c.2007G>A | NP_001361618.1:p.Arg669= | |
| NM_001374690.1:c.1800G>A | NP_001361619.1:p.Arg600= | |
| NM_001374691.1:c.1668G>A | NP_001361620.1:p.Arg556= | |
| NM_001374692.1:c.1668G>A | NP_001361621.1:p.Arg556= | |
| NM_001374693.1:c.1668G>A | NP_001361622.1:p.Arg556= | |
| NM_001374695.1:c.1629G>A | NP_001361624.1:p.Arg543= | |
| NM_007171.4:c.2085G>A | NP_009102.4:p.Arg695= | |
| NR_148391.2:n.2053G>A | ||
| NR_148392.2:n.2271G>A | ||
| NR_148393.2:n.2192G>A | ||
| NR_148394.2:n.1946G>A | ||
| NR_148395.2:n.2344G>A | ||
| NR_148396.2:n.1978G>A | ||
| NR_148397.2:n.2103G>A | ||
| NR_148398.2:n.2058G>A | ||
| NR_148399.2:n.2584G>A | ||
| NR_148400.2:n.2183G>A |