Linked Data
ClinVar Variation Id:
2929262
ClinVar RCV Id:
RCV003781988
dbSNP Id:
rs1429119596
gnomAD v2:
9-134397549-A-G
gnomAD v4:
9-131522162-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.131522162A>G , CM000671.2:g.131522162A>G | GRCh38 |
| NC_000009.11:g.134397549A>G , CM000671.1:g.134397549A>G | GRCh37 |
| NC_000009.10:g.133387370A>G | NCBI36 |
| NG_008896.1:g.24261A>G | |
| NG_008896.2:g.24261A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341012.13:c.1779A>G | ENSP00000343034.7:p.Ala593= | |
| ENST00000404875.7:n.2481A>G | ||
| ENST00000423007.6:c.1998A>G | ENSP00000404119.2:p.Ala666= | |
| ENST00000677295.2:c.*2285A>G | ENSP00000504346.2:n.*2285A>G | |
| ENST00000678264.2:c.*2124A>G | ENSP00000503157.2:n.*2124A>G | |
| ENST00000682070.1:n.2291-40A>G | ||
| ENST00000682813.1:n.2345A>G | ||
| ENST00000683392.1:n.4573-40A>G | ||
| ENST00000683712.1:n.2346A>G | ||
| ENST00000683900.1:n.3841A>G | ||
| ENST00000684062.1:n.2607A>G | ||
| ENST00000684579.1:n.3787A>G | ||
| ENST00000684679.1:n.1168A>G | ||
| ENST00000341012.12:c.1779A>G | ENSP00000343034.7:p.Ala593= | |
| ENST00000372220.5:c.810A>G | ENSP00000361294.5:p.Ala270= | |
| ENST00000372228.9:c.2007A>G | ENSP00000361302.3:p.Ala669= | |
| ENST00000402686.8:c.1941A>G MANE Select | ENSP00000385797.4:p.Ala647= | |
| ENST00000676640.1:c.1941A>G | ENSP00000503281.1:p.Ala647= | |
| ENST00000676803.1:c.1002A>G | ENSP00000503093.1:p.Ala334= | |
| ENST00000676835.1:c.*1156A>G | ENSP00000502911.1:n.*1156A>G | |
| ENST00000677029.1:c.1485A>G | ENSP00000502936.1:p.Ala495= | |
| ENST00000677099.1:c.*1651A>G | ENSP00000504553.1:n.*1651A>G | |
| ENST00000677216.1:c.1590A>G | ENSP00000503772.1:p.Ala530= | |
| ENST00000677221.1:n.966A>G | ||
| ENST00000677295.1:c.*1203-40A>G | ENSP00000504346.1:n.*1203-40A>G | |
| ENST00000677444.1:c.1886A>G | ||
| ENST00000677586.1:n.1308A>G | ||
| ENST00000677626.1:c.1590A>G | ENSP00000503552.1:p.Ala530= | |
| ENST00000677853.1:c.*949A>G | ENSP00000503488.1:n.*949A>G | |
| ENST00000678202.1:n.1100A>G | ||
| ENST00000678264.1:c.*1318A>G | ENSP00000503157.1:n.*1318A>G | |
| ENST00000678303.1:c.1851A>G | ENSP00000503696.1:p.Ala617= | |
| ENST00000678366.1:c.*2190A>G | ENSP00000504353.1:n.*2190A>G | |
| ENST00000678546.1:c.*1886A>G | ENSP00000503062.1:n.*1886A>G | |
| ENST00000678548.1:c.*2080A>G | ENSP00000503934.1:n.*2080A>G | |
| ENST00000678626.1:n.1777A>G | ||
| ENST00000678739.1:c.*2147-40A>G | ENSP00000503806.1:n.*2147-40A>G | |
| ENST00000678833.1:c.*1693A>G | ENSP00000503893.1:n.*1693A>G | |
| ENST00000679023.1:c.1779A>G | ENSP00000503718.1:p.Ala593= | |
| ENST00000679076.1:c.1560A>G | ||
| ENST00000679111.1:c.*697A>G | ENSP00000504257.1:n.*697A>G | |
| ENST00000679189.1:c.1590A>G | ENSP00000503356.1:p.Ala530= | |
| ENST00000341012.11:c.1779A>G | ENSP00000343034.7:p.Ala593= | |
| ENST00000372220.4:c.804A>G | ENSP00000361294.4:p.Ala268= | |
| ENST00000372228.7:c.2007A>G | ENSP00000361302.3:p.Ala669= | |
| ENST00000402686.7:c.1941A>G | ENSP00000385797.3:p.Ala647= | |
| ENST00000404875.6:c.1590A>G | ENSP00000384531.2:p.Ala530= | |
| ENST00000423007.5:c.1941A>G | ENSP00000404119.1:p.Ala647= | |
| ENST00000485278.5:n.2491A>G | ||
| ENST00000494883.1:n.484A>G | ||
| NM_001077365.1:c.1941A>G | NP_001070833.1:p.Ala647= | |
| NM_001077366.1:c.1779A>G | NP_001070834.1:p.Ala593= | |
| NM_001136113.1:c.1941A>G | NP_001129585.1:p.Ala647= | |
| NM_001136114.1:c.1590A>G | NP_001129586.1:p.Ala530= | |
| NM_007171.3:c.2007A>G | NP_009102.3:p.Ala669= | |
| XM_005272156.1:c.2007A>G | XP_005272213.1:p.Ala669= | |
| XM_005272158.1:c.1845A>G | XP_005272215.1:p.Ala615= | |
| XM_005272159.1:c.1656A>G | XP_005272216.1:p.Ala552= | |
| XM_005272162.1:c.810A>G | XP_005272219.1:p.Ala270= | |
| XM_006716932.1:c.1656A>G | XP_006716995.1:p.Ala552= | |
| XM_011518140.1:c.1860A>G | XP_011516442.1:p.Ala620= | |
| XM_011518141.1:c.1794A>G | XP_011516443.1:p.Ala598= | |
| XM_011518142.1:c.1698A>G | XP_011516444.1:p.Ala566= | |
| XM_011518143.1:c.1692A>G | XP_011516445.1:p.Ala564= | |
| XM_011518145.1:c.1551A>G | XP_011516447.1:p.Ala517= | |
| XM_011518147.1:c.879A>G | XP_011516449.1:p.Ala293= | |
| XR_929703.1:n.2183A>G | ||
| NM_001353193.1:c.2007A>G | NP_001340122.1:p.Ala669= | |
| NM_001353194.1:c.1779A>G | NP_001340123.1:p.Ala593= | |
| NM_001353195.1:c.1590A>G | NP_001340124.1:p.Ala530= | |
| NM_001353196.1:c.1851A>G | NP_001340125.1:p.Ala617= | |
| NM_001353197.1:c.1845A>G | NP_001340126.1:p.Ala615= | |
| NM_001353198.1:c.1845A>G | NP_001340127.1:p.Ala615= | |
| NM_001353199.1:c.1656A>G | NP_001340128.1:p.Ala552= | |
| NM_001353200.1:c.1485A>G | NP_001340129.1:p.Ala495= | |
| NR_148391.1:n.1991A>G | ||
| NR_148392.1:n.2209A>G | ||
| NR_148393.1:n.2130A>G | ||
| NR_148394.1:n.1884A>G | ||
| NR_148395.1:n.2282A>G | ||
| NR_148396.1:n.1916A>G | ||
| NR_148397.1:n.2041A>G | ||
| NR_148398.1:n.1996A>G | ||
| NR_148399.1:n.2522A>G | ||
| NR_148400.1:n.2121A>G | ||
| XM_005272162.3:c.810A>G | XP_005272219.1:p.Ala270= | |
| XM_006716932.2:c.1656A>G | XP_006716995.1:p.Ala552= | |
| XM_011518140.2:c.1860A>G | XP_011516442.1:p.Ala620= | |
| XM_011518141.2:c.1794A>G | XP_011516443.1:p.Ala598= | |
| XM_011518142.2:c.1698A>G | XP_011516444.1:p.Ala566= | |
| XM_011518143.2:c.1692A>G | XP_011516445.1:p.Ala564= | |
| XM_011518145.2:c.1551A>G | XP_011516447.1:p.Ala517= | |
| XM_017014205.2:c.810A>G | XP_016869694.1:p.Ala270= | |
| XM_024447380.1:c.810A>G | XP_024303148.1:p.Ala270= | |
| XM_024447381.1:c.1116A>G | XP_024303149.1:p.Ala372= | |
| XM_024447382.1:c.810A>G | XP_024303150.1:p.Ala270= | |
| XR_001746160.2:n.2111A>G | ||
| XR_001746162.2:n.2316A>G | ||
| XR_001746164.1:n.2033A>G | ||
| XR_001746166.2:n.2328A>G | ||
| NM_001077365.2:c.1941A>G MANE Select | NP_001070833.1:p.Ala647= | |
| NM_001077366.2:c.1779A>G | NP_001070834.1:p.Ala593= | |
| NM_001136113.2:c.1941A>G | NP_001129585.1:p.Ala647= | |
| NM_001136114.2:c.1590A>G | NP_001129586.1:p.Ala530= | |
| NM_001353193.2:c.2007A>G | NP_001340122.2:p.Ala669= | |
| NM_001353194.2:c.1779A>G | NP_001340123.1:p.Ala593= | |
| NM_001353195.2:c.1590A>G | NP_001340124.1:p.Ala530= | |
| NM_001353196.2:c.1851A>G | NP_001340125.1:p.Ala617= | |
| NM_001353197.2:c.1845A>G | NP_001340126.2:p.Ala615= | |
| NM_001353198.2:c.1845A>G | NP_001340127.2:p.Ala615= | |
| NM_001353199.2:c.1656A>G | NP_001340128.2:p.Ala552= | |
| NM_001353200.2:c.1485A>G | NP_001340129.1:p.Ala495= | |
| NM_001374689.1:c.1929A>G | NP_001361618.1:p.Ala643= | |
| NM_001374690.1:c.1722A>G | NP_001361619.1:p.Ala574= | |
| NM_001374691.1:c.1590A>G | NP_001361620.1:p.Ala530= | |
| NM_001374692.1:c.1590A>G | NP_001361621.1:p.Ala530= | |
| NM_001374693.1:c.1590A>G | NP_001361622.1:p.Ala530= | |
| NM_001374695.1:c.1551A>G | NP_001361624.1:p.Ala517= | |
| NM_007171.4:c.2007A>G | NP_009102.4:p.Ala669= | |
| NR_148391.2:n.1975A>G | ||
| NR_148392.2:n.2193A>G | ||
| NR_148393.2:n.2114A>G | ||
| NR_148394.2:n.1868A>G | ||
| NR_148395.2:n.2266A>G | ||
| NR_148396.2:n.1900A>G | ||
| NR_148397.2:n.2025A>G | ||
| NR_148398.2:n.1980A>G | ||
| NR_148399.2:n.2506A>G | ||
| NR_148400.2:n.2105A>G |