Linked Data
ClinVar Variation Id:
349381
dbSNP Id:
rs144664551
ExAC:
4:654380 G / A
gnomAD v2:
4-654380-G-A
gnomAD v3:
4-660591-G-A
gnomAD v4:
4-660591-G-A
COSMIC:
COSM1540548
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.660591G>A , CM000666.2:g.660591G>A | GRCh38 |
| NC_000004.11:g.654380G>A , CM000666.1:g.654380G>A | GRCh37 |
| NC_000004.10:g.644380G>A | NCBI36 |
| NG_009839.1:g.40018G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496514.6:c.1592G>A MANE Select | ENSP00000420295.1:p.Arg531Gln | |
| ENST00000255622.10:c.1592G>A | ENSP00000255622.6:p.Arg531Gln | |
| ENST00000429163.6:c.755G>A | ENSP00000406334.2:p.Arg252Gln | |
| ENST00000496514.5:c.1592G>A | ENSP00000420295.1:p.Arg531Gln | |
| NM_000283.3:c.1592G>A | NP_000274.2:p.Arg531Gln | |
| NM_001145291.1:c.1592G>A | NP_001138763.1:p.Arg531Gln | |
| NM_001145292.1:c.755G>A | NP_001138764.1:p.Arg252Gln | |
| XM_011513473.1:c.1811G>A | XP_011511775.1:p.Arg604Gln | |
| XM_011513474.1:c.1811G>A | XP_011511776.1:p.Arg604Gln | |
| XM_011513475.1:c.1592G>A | XP_011511777.1:p.Arg531Gln | |
| XM_011513476.1:c.1811G>A | XP_011511778.1:p.Arg604Gln | |
| XM_011513477.1:c.797G>A | XP_011511779.1:p.Arg266Gln | |
| XM_011513478.1:c.521G>A | XP_011511780.1:p.Arg174Gln | |
| NM_001350154.1:c.755G>A | NP_001337083.1:p.Arg252Gln | |
| NM_001350155.1:c.437G>A | NP_001337084.1:p.Arg146Gln | |
| XM_011513473.3:c.1811G>A | XP_011511775.1:p.Arg604Gln | |
| XM_011513474.3:c.1811G>A | XP_011511776.1:p.Arg604Gln | |
| XM_011513475.2:c.1592G>A | XP_011511777.1:p.Arg531Gln | |
| XM_011513476.3:c.1811G>A | XP_011511778.1:p.Arg604Gln | |
| XM_011513478.2:c.521G>A | XP_011511780.1:p.Arg174Gln | |
| XM_017008284.1:c.755G>A | XP_016863773.1:p.Arg252Gln | |
| XM_017008285.1:c.755G>A | XP_016863774.1:p.Arg252Gln | |
| XM_017008286.1:c.755G>A | XP_016863775.1:p.Arg252Gln | |
| NM_001350154.2:c.755G>A | NP_001337083.1:p.Arg252Gln | |
| NM_001350155.2:c.437G>A | NP_001337084.1:p.Arg146Gln | |
| NM_000283.4:c.1592G>A MANE Select | NP_000274.3:p.Arg531Gln | |
| NM_001145291.2:c.1592G>A | NP_001138763.2:p.Arg531Gln | |
| NM_001145292.2:c.755G>A | NP_001138764.2:p.Arg252Gln | |
| NM_001350154.3:c.755G>A | NP_001337083.1:p.Arg252Gln | |
| NM_001350155.3:c.437G>A | NP_001337084.1:p.Arg146Gln | |
| NM_001379246.1:c.755G>A | NP_001366175.1:p.Arg252Gln | |
| NM_001379247.1:c.755G>A | NP_001366176.1:p.Arg252Gln |