Linked Data
ClinVar Variation Id:
2556267
ClinVar RCV Id:
RCV004325059
dbSNP Id:
rs1228948401
gnomAD v2:
3-49146560-C-T
gnomAD v3:
3-49109127-C-T
gnomAD v4:
3-49109127-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49109127C>T , CM000665.2:g.49109127C>T | GRCh38 |
| NC_000003.11:g.49146560C>T , CM000665.1:g.49146560C>T | GRCh37 |
| NC_000003.10:g.49121564C>T | NCBI36 |
| NG_042312.1:g.1003G>A | |
| NG_054716.1:g.16812G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698200.1:c.3878G>A | ENSP00000513604.2:p.Gly1293Glu | |
| ENST00000306026.6:c.4052G>A | ENSP00000303503.6:p.Gly1351Glu | |
| ENST00000398896.6:c.3691-599G>A | ENSP00000381870.3:n.3691-599G>A | |
| ENST00000417901.6:c.4039-599G>A MANE Select | ENSP00000395260.1:n.4039-599G>A | |
| ENST00000689715.1:c.3941G>A | ENSP00000510256.1:p.Gly1314Glu | |
| ENST00000691288.1:c.3697-599G>A | ENSP00000508481.1:n.3697-599G>A | |
| ENST00000692912.1:c.4097G>A | ENSP00000508993.1:p.Gly1366Glu | |
| ENST00000693111.1:c.*150-599G>A | ENSP00000509474.1:n.*150-599G>A | |
| ENST00000398888.6:c.3788G>A | ENSP00000381863.2:p.Gly1263Glu | |
| ENST00000398892.7:c.3908G>A | ENSP00000381867.3:p.Gly1303Glu | |
| ENST00000398896.5:c.3425-599G>A | ||
| ENST00000398898.6:c.3850-599G>A | ENSP00000381872.2:n.3850-599G>A | |
| ENST00000417901.5:c.4039-599G>A | ENSP00000395260.1:n.4039-599G>A | |
| ENST00000434032.6:c.4091G>A | ENSP00000401197.2:p.Gly1364Glu | |
| ENST00000453664.5:c.4003-599G>A | ENSP00000400090.1:n.4003-599G>A | |
| NM_001199160.1:c.4091G>A | NP_001186089.1:p.Gly1364Glu | |
| NM_001199161.1:c.4039-599G>A | NP_001186090.1:n.4039-599G>A | |
| NM_001199162.1:c.4003-599G>A | NP_001186091.1:n.4003-599G>A | |
| NM_006677.2:c.3788G>A | NP_006668.1:p.Gly1263Glu | |
| XM_005264823.1:c.4103G>A | XP_005264880.1:p.Gly1368Glu | |
| XM_005264824.2:c.4103G>A | XP_005264881.1:p.Gly1368Glu | |
| XM_005264825.1:c.4097G>A | XP_005264882.1:p.Gly1366Glu | |
| XM_005264826.1:c.4097G>A | XP_005264883.1:p.Gly1366Glu | |
| XM_005264827.1:c.4058G>A | XP_005264884.1:p.Gly1353Glu | |
| XM_005264829.1:c.4045-599G>A | XP_005264886.1:n.4045-599G>A | |
| XM_005264830.1:c.3800G>A | XP_005264887.1:p.Gly1267Glu | |
| XM_005264831.1:c.3691-599G>A | XP_005264888.1:n.3691-599G>A | |
| XM_006712946.1:c.4100G>A | XP_006713009.1:p.Gly1367Glu | |
| XM_006712947.1:c.4049G>A | XP_006713010.1:p.Gly1350Glu | |
| XM_006712948.1:c.4033-599G>A | XP_006713011.1:n.4033-599G>A | |
| XM_006712949.1:c.3953G>A | XP_006713012.1:p.Gly1318Glu | |
| XM_006712950.1:c.3994-599G>A | XP_006713013.1:n.3994-599G>A | |
| XM_006712951.1:c.3991-599G>A | XP_006713014.1:n.3991-599G>A | |
| XM_006712952.1:c.3988-599G>A | XP_006713015.1:n.3988-599G>A | |
| XM_006712953.1:c.4046G>A | XP_006713016.1:p.Gly1349Glu | |
| NM_001351098.1:c.4000-599G>A | NP_001338027.1:n.4000-599G>A | |
| NM_001351099.1:c.4030-599G>A | NP_001338028.1:n.4030-599G>A | |
| NM_001351100.1:c.4094G>A | NP_001338029.1:p.Gly1365Glu | |
| NM_001351101.1:c.4039-599G>A | NP_001338030.1:n.4039-599G>A | |
| NM_001351102.1:c.3691-599G>A | NP_001338031.1:n.3691-599G>A | |
| NM_001351103.1:c.3736-599G>A | NP_001338032.1:n.3736-599G>A | |
| NM_001351104.1:c.3742-599G>A | NP_001338033.1:n.3742-599G>A | |
| NM_001351105.1:c.3941G>A | NP_001338034.1:p.Gly1314Glu | |
| NM_001351106.1:c.3736-599G>A | NP_001338035.1:n.3736-599G>A | |
| NM_001351107.1:c.3994-599G>A | NP_001338036.1:n.3994-599G>A | |
| NM_001351108.1:c.3697-599G>A | NP_001338037.1:n.3697-599G>A | |
| XM_005264823.3:c.4103G>A | XP_005264880.1:p.Gly1368Glu | |
| XM_005264825.3:c.4097G>A | XP_005264882.1:p.Gly1366Glu | |
| XM_005264826.3:c.4097G>A | XP_005264883.1:p.Gly1366Glu | |
| XM_005264827.2:c.4058G>A | XP_005264884.1:p.Gly1353Glu | |
| XM_005264829.3:c.4045-599G>A | XP_005264886.1:n.4045-599G>A | |
| XM_005264830.3:c.3800G>A | XP_005264887.1:p.Gly1267Glu | |
| XM_006712946.3:c.4100G>A | XP_006713009.1:p.Gly1367Glu | |
| XM_006712947.2:c.4049G>A | XP_006713010.1:p.Gly1350Glu | |
| XM_006712948.3:c.4033-599G>A | XP_006713011.1:n.4033-599G>A | |
| XM_006712949.3:c.3953G>A | XP_006713012.1:p.Gly1318Glu | |
| XM_006712951.2:c.3991-599G>A | XP_006713014.1:n.3991-599G>A | |
| XM_006712952.2:c.3988-599G>A | XP_006713015.1:n.3988-599G>A | |
| XM_017005616.2:c.4088G>A | XP_016861105.1:p.Gly1363Glu | |
| XM_017005617.1:c.4052G>A | XP_016861106.1:p.Gly1351Glu | |
| XM_017005619.2:c.4036-599G>A | XP_016861108.1:n.4036-599G>A | |
| XM_017005621.2:c.3947G>A | XP_016861110.1:p.Gly1316Glu | |
| XM_017005624.2:c.3883-599G>A | XP_016861113.1:n.3883-599G>A | |
| XM_017005625.2:c.3794G>A | XP_016861114.1:p.Gly1265Glu | |
| XM_017005626.1:c.3788G>A | XP_016861115.1:p.Gly1263Glu | |
| XM_017005627.1:c.3755G>A | XP_016861116.1:p.Gly1252Glu | |
| XM_017005628.1:c.3749G>A | XP_016861117.1:p.Gly1250Glu | |
| XM_017005629.1:c.3743G>A | XP_016861118.1:p.Gly1248Glu | |
| XM_017005633.2:c.3730-599G>A | XP_016861122.1:n.3730-599G>A | |
| XM_017005635.1:c.2447G>A | XP_016861124.1:p.Gly816Glu | |
| NM_001199160.2:c.4091G>A | NP_001186089.1:p.Gly1364Glu | |
| NM_001199161.2:c.4039-599G>A MANE Select | NP_001186090.1:n.4039-599G>A | |
| NM_001199162.2:c.4003-599G>A | NP_001186091.1:n.4003-599G>A | |
| NM_001351098.2:c.4000-599G>A | NP_001338027.1:n.4000-599G>A | |
| NM_001351099.2:c.4030-599G>A | NP_001338028.1:n.4030-599G>A | |
| NM_001351100.2:c.4094G>A | NP_001338029.1:p.Gly1365Glu | |
| NM_001351101.2:c.4039-599G>A | NP_001338030.1:n.4039-599G>A | |
| NM_001351102.2:c.3691-599G>A | NP_001338031.1:n.3691-599G>A | |
| NM_001351103.2:c.3736-599G>A | NP_001338032.1:n.3736-599G>A | |
| NM_001351104.2:c.3742-599G>A | NP_001338033.1:n.3742-599G>A | |
| NM_001351105.2:c.3941G>A | NP_001338034.1:p.Gly1314Glu | |
| NM_001351106.2:c.3736-599G>A | NP_001338035.1:n.3736-599G>A | |
| NM_001351107.2:c.3994-599G>A | NP_001338036.1:n.3994-599G>A | |
| NM_001351108.2:c.3697-599G>A | NP_001338037.1:n.3697-599G>A | |
| NM_001389594.1:c.4097G>A | NP_001376523.1:p.Gly1366Glu | |
| NM_001389595.1:c.4097G>A | NP_001376524.1:p.Gly1366Glu | |
| NM_001389596.1:c.4045-599G>A | NP_001376525.1:n.4045-599G>A | |
| NM_001389597.1:c.3800G>A | NP_001376526.1:p.Gly1267Glu | |
| NM_001389598.1:c.4033-599G>A | NP_001376527.1:n.4033-599G>A | |
| NM_001389599.1:c.3991-599G>A | NP_001376528.1:n.3991-599G>A | |
| NM_001389600.1:c.3988-599G>A | NP_001376529.1:n.3988-599G>A | |
| NM_001389601.1:c.4046G>A | NP_001376530.1:p.Gly1349Glu | |
| NM_001389602.1:c.4088G>A | NP_001376531.1:p.Gly1363Glu | |
| NM_001389603.1:c.4052G>A | NP_001376532.1:p.Gly1351Glu | |
| NM_001389604.1:c.4036-599G>A | NP_001376533.1:n.4036-599G>A | |
| NM_001389605.1:c.3883-599G>A | NP_001376534.1:n.3883-599G>A | |
| NM_001389606.1:c.3794G>A | NP_001376535.1:p.Gly1265Glu | |
| NM_001389607.1:c.3749G>A | NP_001376536.1:p.Gly1250Glu | |
| NM_001389608.1:c.3730-599G>A | NP_001376537.1:n.3730-599G>A | |
| NM_006677.3:c.3788G>A | NP_006668.1:p.Gly1263Glu | |
| NM_001400288.1:c.4097G>A | NP_001387217.1:p.Gly1366Glu | |
| NM_001400290.1:c.4042-599G>A | NP_001387219.1:n.4042-599G>A | |
| NM_001400292.1:c.4039-599G>A | NP_001387221.1:n.4039-599G>A | |
| NM_001400293.1:c.4033-599G>A | NP_001387222.1:n.4033-599G>A | |
| NM_001400294.1:c.4024-599G>A | NP_001387223.1:n.4024-599G>A | |
| NM_001400295.1:c.3997-599G>A | NP_001387224.1:n.3997-599G>A | |
| NM_001400296.1:c.3994-599G>A | NP_001387225.1:n.3994-599G>A | |
| NM_001400297.1:c.3994-599G>A | NP_001387226.1:n.3994-599G>A | |
| NM_001400298.1:c.3985-599G>A | NP_001387227.1:n.3985-599G>A | |
| NM_001400299.1:c.3964-599G>A | NP_001387228.1:n.3964-599G>A |