Linked Data
ClinVar Variation Id:
130006
dbSNP Id:
rs62620174
ExAC:
9:134393834 A / G
gnomAD v2:
9-134393834-A-G
gnomAD v3:
9-131518447-A-G
gnomAD v4:
9-131518447-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.131518447A>G , CM000671.2:g.131518447A>G | GRCh38 |
| NC_000009.11:g.134393834A>G , CM000671.1:g.134393834A>G | GRCh37 |
| NC_000009.10:g.133383655A>G | NCBI36 |
| NG_008896.1:g.20546A>G | |
| NG_008896.2:g.20546A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341012.13:c.1113A>G | ENSP00000343034.7:p.Glu371= | |
| ENST00000404875.7:n.1815A>G | ||
| ENST00000423007.6:c.1332A>G | ENSP00000404119.2:p.Glu444= | |
| ENST00000677295.2:c.*1619A>G | ENSP00000504346.2:n.*1619A>G | |
| ENST00000678264.2:c.*1458A>G | ENSP00000503157.2:n.*1458A>G | |
| ENST00000682070.1:n.1740A>G | ||
| ENST00000682535.1:n.47A>G | ||
| ENST00000682539.1:c.213A>G | ||
| ENST00000682813.1:n.1540A>G | ||
| ENST00000683110.1:n.3A>G | ||
| ENST00000683392.1:n.4022A>G | ||
| ENST00000683712.1:n.1680A>G | ||
| ENST00000683900.1:n.3175A>G | ||
| ENST00000684062.1:n.1941A>G | ||
| ENST00000684579.1:n.3121A>G | ||
| ENST00000684679.1:n.502A>G | ||
| ENST00000341012.12:c.1113A>G | ENSP00000343034.7:p.Glu371= | |
| ENST00000372220.5:c.144A>G | ENSP00000361294.5:p.Glu48= | |
| ENST00000372228.9:c.1341A>G | ENSP00000361302.3:p.Glu447= | |
| ENST00000402686.8:c.1275A>G MANE Select | ENSP00000385797.4:p.Glu425= | |
| ENST00000676640.1:c.1275A>G | ENSP00000503281.1:p.Glu425= | |
| ENST00000676803.1:c.450A>G | ENSP00000503093.1:p.Glu150= | |
| ENST00000676835.1:c.*490A>G | ENSP00000502911.1:n.*490A>G | |
| ENST00000677029.1:c.819A>G | ENSP00000502936.1:p.Glu273= | |
| ENST00000677099.1:c.*985A>G | ENSP00000504553.1:n.*985A>G | |
| ENST00000677216.1:c.924A>G | ENSP00000503772.1:p.Glu308= | |
| ENST00000677221.1:n.300A>G | ||
| ENST00000677295.1:c.*652A>G | ENSP00000504346.1:n.*652A>G | |
| ENST00000677444.1:c.1081A>G | ||
| ENST00000677586.1:n.756A>G | ||
| ENST00000677626.1:c.924A>G | ENSP00000503552.1:p.Glu308= | |
| ENST00000677677.1:n.1235A>G | ||
| ENST00000677853.1:c.*283A>G | ENSP00000503488.1:n.*283A>G | |
| ENST00000677944.1:c.537A>G | ||
| ENST00000677983.1:n.364A>G | ||
| ENST00000678202.1:n.295A>G | ||
| ENST00000678264.1:c.*652A>G | ENSP00000503157.1:n.*652A>G | |
| ENST00000678303.1:c.1185A>G | ENSP00000503696.1:p.Glu395= | |
| ENST00000678366.1:c.*1524A>G | ENSP00000504353.1:n.*1524A>G | |
| ENST00000678546.1:c.*1220A>G | ENSP00000503062.1:n.*1220A>G | |
| ENST00000678548.1:c.*1347A>G | ENSP00000503934.1:n.*1347A>G | |
| ENST00000678626.1:n.972A>G | ||
| ENST00000678733.1:c.356A>G | ||
| ENST00000678739.1:c.*1601A>G | ENSP00000503806.1:n.*1601A>G | |
| ENST00000678795.1:n.362A>G | ||
| ENST00000678833.1:c.*722A>G | ENSP00000503893.1:n.*722A>G | |
| ENST00000678942.1:c.455A>G | ENSP00000504690.1:n.455A>G | |
| ENST00000679023.1:c.1113A>G | ENSP00000503718.1:p.Glu371= | |
| ENST00000679076.1:c.894A>G | ||
| ENST00000679111.1:c.1275A>G | ENSP00000504257.1:p.Glu425= | |
| ENST00000679189.1:c.924A>G | ENSP00000503356.1:p.Glu308= | |
| ENST00000341012.11:c.1113A>G | ENSP00000343034.7:p.Glu371= | |
| ENST00000372220.4:c.138A>G | ENSP00000361294.4:p.Glu46= | |
| ENST00000372228.7:c.1341A>G | ENSP00000361302.3:p.Glu447= | |
| ENST00000402686.7:c.1275A>G | ENSP00000385797.3:p.Glu425= | |
| ENST00000404875.6:c.924A>G | ENSP00000384531.2:p.Glu308= | |
| ENST00000423007.5:c.1275A>G | ENSP00000404119.1:p.Glu425= | |
| ENST00000485278.5:n.1830A>G | ||
| NM_001077365.1:c.1275A>G | NP_001070833.1:p.Glu425= | |
| NM_001077366.1:c.1113A>G | NP_001070834.1:p.Glu371= | |
| NM_001136113.1:c.1275A>G | NP_001129585.1:p.Glu425= | |
| NM_001136114.1:c.924A>G | NP_001129586.1:p.Glu308= | |
| NM_007171.3:c.1341A>G | NP_009102.3:p.Glu447= | |
| XM_005272156.1:c.1341A>G | XP_005272213.1:p.Glu447= | |
| XM_005272158.1:c.1179A>G | XP_005272215.1:p.Glu393= | |
| XM_005272159.1:c.990A>G | XP_005272216.1:p.Glu330= | |
| XM_005272162.1:c.144A>G | XP_005272219.1:p.Glu48= | |
| XM_006716932.1:c.990A>G | XP_006716995.1:p.Glu330= | |
| XM_011518140.1:c.1194A>G | XP_011516442.1:p.Glu398= | |
| XM_011518141.1:c.1128A>G | XP_011516443.1:p.Glu376= | |
| XM_011518142.1:c.1032A>G | XP_011516444.1:p.Glu344= | |
| XM_011518143.1:c.1026A>G | XP_011516445.1:p.Glu342= | |
| XM_011518144.1:c.1341A>G | XP_011516446.1:p.Glu447= | |
| XM_011518145.1:c.885A>G | XP_011516447.1:p.Glu295= | |
| XM_011518146.1:c.1026A>G | XP_011516448.1:p.Glu342= | |
| XM_011518147.1:c.213A>G | XP_011516449.1:p.Glu71= | |
| XR_929703.1:n.1517A>G | ||
| NM_001353193.1:c.1341A>G | NP_001340122.1:p.Glu447= | |
| NM_001353194.1:c.1113A>G | NP_001340123.1:p.Glu371= | |
| NM_001353195.1:c.924A>G | NP_001340124.1:p.Glu308= | |
| NM_001353196.1:c.1185A>G | NP_001340125.1:p.Glu395= | |
| NM_001353197.1:c.1179A>G | NP_001340126.1:p.Glu393= | |
| NM_001353198.1:c.1179A>G | NP_001340127.1:p.Glu393= | |
| NM_001353199.1:c.990A>G | NP_001340128.1:p.Glu330= | |
| NM_001353200.1:c.819A>G | NP_001340129.1:p.Glu273= | |
| NR_148391.1:n.1325A>G | ||
| NR_148392.1:n.1543A>G | ||
| NR_148393.1:n.1325A>G | ||
| NR_148394.1:n.1218A>G | ||
| NR_148395.1:n.1477A>G | ||
| NR_148396.1:n.1111A>G | ||
| NR_148397.1:n.1375A>G | ||
| NR_148398.1:n.1330A>G | ||
| NR_148399.1:n.1717A>G | ||
| NR_148400.1:n.1316A>G | ||
| XM_005272162.3:c.144A>G | XP_005272219.1:p.Glu48= | |
| XM_006716932.2:c.990A>G | XP_006716995.1:p.Glu330= | |
| XM_011518140.2:c.1194A>G | XP_011516442.1:p.Glu398= | |
| XM_011518141.2:c.1128A>G | XP_011516443.1:p.Glu376= | |
| XM_011518142.2:c.1032A>G | XP_011516444.1:p.Glu344= | |
| XM_011518143.2:c.1026A>G | XP_011516445.1:p.Glu342= | |
| XM_011518145.2:c.885A>G | XP_011516447.1:p.Glu295= | |
| XM_017014205.2:c.144A>G | XP_016869694.1:p.Glu48= | |
| XM_024447380.1:c.144A>G | XP_024303148.1:p.Glu48= | |
| XM_024447381.1:c.450A>G | XP_024303149.1:p.Glu150= | |
| XM_024447382.1:c.144A>G | XP_024303150.1:p.Glu48= | |
| XR_001746160.2:n.1445A>G | ||
| XR_001746162.2:n.1511A>G | ||
| XR_001746164.1:n.1228A>G | ||
| XR_001746166.2:n.1662A>G | ||
| NM_001077365.2:c.1275A>G MANE Select | NP_001070833.1:p.Glu425= | |
| NM_001077366.2:c.1113A>G | NP_001070834.1:p.Glu371= | |
| NM_001136113.2:c.1275A>G | NP_001129585.1:p.Glu425= | |
| NM_001136114.2:c.924A>G | NP_001129586.1:p.Glu308= | |
| NM_001353193.2:c.1341A>G | NP_001340122.2:p.Glu447= | |
| NM_001353194.2:c.1113A>G | NP_001340123.1:p.Glu371= | |
| NM_001353195.2:c.924A>G | NP_001340124.1:p.Glu308= | |
| NM_001353196.2:c.1185A>G | NP_001340125.1:p.Glu395= | |
| NM_001353197.2:c.1179A>G | NP_001340126.2:p.Glu393= | |
| NM_001353198.2:c.1179A>G | NP_001340127.2:p.Glu393= | |
| NM_001353199.2:c.990A>G | NP_001340128.2:p.Glu330= | |
| NM_001353200.2:c.819A>G | NP_001340129.1:p.Glu273= | |
| NM_001374689.1:c.1263A>G | NP_001361618.1:p.Glu421= | |
| NM_001374690.1:c.1275A>G | NP_001361619.1:p.Glu425= | |
| NM_001374691.1:c.924A>G | NP_001361620.1:p.Glu308= | |
| NM_001374692.1:c.924A>G | NP_001361621.1:p.Glu308= | |
| NM_001374693.1:c.924A>G | NP_001361622.1:p.Glu308= | |
| NM_001374695.1:c.885A>G | NP_001361624.1:p.Glu295= | |
| NM_007171.4:c.1341A>G | NP_009102.4:p.Glu447= | |
| NR_148391.2:n.1309A>G | ||
| NR_148392.2:n.1527A>G | ||
| NR_148393.2:n.1309A>G | ||
| NR_148394.2:n.1202A>G | ||
| NR_148395.2:n.1461A>G | ||
| NR_148396.2:n.1095A>G | ||
| NR_148397.2:n.1359A>G | ||
| NR_148398.2:n.1314A>G | ||
| NR_148399.2:n.1701A>G | ||
| NR_148400.2:n.1300A>G |