Linked Data
ClinVar Variation Id:
2399
dbSNP Id:
rs28941472
ExAC:
7:65554101 A / G
gnomAD v2:
7-65554101-A-G
gnomAD v3:
7-66089114-A-G
gnomAD v4:
7-66089114-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.66089114A>G , CM000669.2:g.66089114A>G | GRCh38 |
| NC_000007.13:g.65554101A>G , CM000669.1:g.65554101A>G | GRCh37 |
| NC_000007.12:g.65191536A>G | NCBI36 |
| NG_009288.1:g.18326A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304874.14:c.857A>G MANE Select | ENSP00000307188.9:p.Gln286Arg | |
| ENST00000362000.10:c.662A>G | ENSP00000354710.6:p.Gln221Arg | |
| ENST00000380839.9:c.779A>G | ENSP00000370219.4:p.Gln260Arg | |
| ENST00000395331.4:c.857A>G | ENSP00000378740.3:p.Gln286Arg | |
| ENST00000395332.8:c.857A>G | ENSP00000378741.3:p.Gln286Arg | |
| ENST00000488343.2:c.26A>G | ENSP00000500864.1:p.Gln9Arg | |
| ENST00000671817.1:c.779A>G | ENSP00000500462.1:p.Gln260Arg | |
| ENST00000672498.1:c.*156A>G | ENSP00000500227.1:n.*156A>G | |
| ENST00000672586.1:n.1616A>G | ||
| ENST00000672676.1:n.1881A>G | ||
| ENST00000673149.1:n.669A>G | ||
| ENST00000673350.1:n.2974A>G | ||
| ENST00000673518.1:c.779A>G | ENSP00000499889.1:p.Gln260Arg | |
| ENST00000304874.13:c.857A>G | ENSP00000307188.9:p.Gln286Arg | |
| ENST00000362000.9:c.662A>G | ENSP00000354710.5:p.Gln221Arg | |
| ENST00000380839.8:c.779A>G | ENSP00000370219.4:p.Gln260Arg | |
| ENST00000395331.3:c.857A>G | ENSP00000378740.3:p.Gln286Arg | |
| ENST00000395332.7:c.857A>G | ENSP00000378741.3:p.Gln286Arg | |
| ENST00000450043.2:c.170A>G | ENSP00000396527.2:p.Gln57Arg | |
| ENST00000488343.1:n.26A>G | ||
| ENST00000493708.5:n.238A>G | ||
| NM_000048.3:c.857A>G | NP_000039.2:p.Gln286Arg | |
| NM_001024943.1:c.857A>G | NP_001020114.1:p.Gln286Arg | |
| NM_001024944.1:c.857A>G | NP_001020115.1:p.Gln286Arg | |
| NM_001024946.1:c.779A>G | NP_001020117.1:p.Gln260Arg | |
| NM_000048.4:c.857A>G MANE Select | NP_000039.2:p.Gln286Arg | |
| NM_001024943.2:c.857A>G | NP_001020114.1:p.Gln286Arg | |
| NM_001024944.2:c.857A>G | NP_001020115.1:p.Gln286Arg | |
| NM_001024946.2:c.779A>G | NP_001020117.1:p.Gln260Arg |