Linked Data
ClinVar Variation Id:
3110421
ClinVar RCV Id:
RCV004400836
dbSNP Id:
rs370405991
ExAC:
7:2644558 G / A
gnomAD v2:
7-2644558-G-A
gnomAD v3:
7-2604924-G-A
gnomAD v4:
7-2604924-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.2604924G>A , CM000669.2:g.2604924G>A | GRCh38 |
| NC_000007.13:g.2644558G>A , CM000669.1:g.2644558G>A | GRCh37 |
| NC_000007.12:g.2611084G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000402050.7:c.1676G>A MANE Select | ENSP00000385597.2:p.Arg559Gln | |
| ENST00000325979.11:c.1481G>A | ENSP00000313772.7:p.Arg494Gln | |
| ENST00000325997.13:c.*1453G>A | ENSP00000314011.10:n.*1453G>A | |
| ENST00000402050.6:c.1676G>A | ENSP00000385597.2:p.Arg559Gln | |
| ENST00000404984.5:c.1523G>A | ENSP00000385945.1:p.Arg508Gln | |
| ENST00000423196.1:c.416G>A | ENSP00000405982.1:p.Arg139Gln | |
| ENST00000438376.6:c.1628G>A | ENSP00000396178.2:p.Arg543Gln | |
| ENST00000476665.5:c.1676G>A | ENSP00000480715.1:p.Arg559Gln | |
| ENST00000486730.1:n.495G>A | ||
| ENST00000611775.4:c.1628G>A | ENSP00000480668.1:p.Arg543Gln | |
| ENST00000623361.3:c.1481G>A | ENSP00000485601.1:p.Arg494Gln | |
| NM_001287499.1:c.1676G>A | NP_001274428.1:p.Arg559Gln | |
| NM_001287500.1:c.1628G>A | NP_001274429.1:p.Arg543Gln | |
| NM_001287501.1:c.1481G>A | NP_001274430.1:p.Arg494Gln | |
| NM_001287502.1:c.1481G>A | NP_001274431.1:p.Arg494Gln | |
| NM_152558.4:c.1676G>A | NP_689771.3:p.Arg559Gln | |
| XM_006715676.2:c.1481G>A | XP_006715739.1:p.Arg494Gln | |
| XM_006715677.2:c.1241G>A | XP_006715740.1:p.Arg414Gln | |
| XM_011515242.1:c.1541G>A | XP_011513544.1:p.Arg514Gln | |
| XM_011515243.1:c.1481G>A | XP_011513545.1:p.Arg494Gln | |
| XM_011515244.1:c.959G>A | XP_011513546.1:p.Arg320Gln | |
| XM_011515244.3:c.959G>A | XP_011513546.1:p.Arg320Gln | |
| XM_017011902.1:c.1697G>A | XP_016867391.1:p.Arg566Gln | |
| XM_017011903.1:c.1481G>A | XP_016867392.1:p.Arg494Gln | |
| XM_024446698.1:c.1601G>A | XP_024302466.1:p.Arg534Gln | |
| XM_024446699.1:c.1241G>A | XP_024302467.1:p.Arg414Gln | |
| XM_024446700.1:c.1241G>A | XP_024302468.1:p.Arg414Gln | |
| NM_152558.5:c.1676G>A MANE Select | NP_689771.3:p.Arg559Gln | |
| NM_001287499.2:c.1676G>A | NP_001274428.1:p.Arg559Gln | |
| NM_001287500.2:c.1628G>A | NP_001274429.1:p.Arg543Gln | |
| NM_001287502.2:c.1481G>A | NP_001274431.1:p.Arg494Gln | |
| NM_001287501.2:c.1481G>A | NP_001274430.1:p.Arg494Gln |