Linked Data
ClinVar Variation Id:
216435
dbSNP Id:
rs370222210
ExAC:
19:1221987 G / A
gnomAD v2:
19-1221987-G-A
gnomAD v3:
19-1221988-G-A
gnomAD v4:
19-1221988-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1221988G>A , CM000681.2:g.1221988G>A | GRCh38 |
| NC_000019.9:g.1221987G>A , CM000681.1:g.1221987G>A | GRCh37 |
| NC_000019.8:g.1172987G>A | NCBI36 |
| NG_007460.2:g.37582G>A , LRG_319:g.37582G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000585465.3:c.902G>A | ENSP00000490268.2:p.Arg301Gln | |
| ENST00000585748.3:c.530G>A | ENSP00000477641.2:p.Arg177Gln | |
| ENST00000585851.2:c.728G>A | ENSP00000467912.2:p.Arg243Gln | |
| ENST00000326873.12:c.902G>A MANE Select | ENSP00000324856.6:p.Arg301Gln | |
| ENST00000652231.1:c.902G>A | ENSP00000498804.1:p.Arg301Gln | |
| ENST00000326873.11:c.902G>A | ENSP00000324856.6:p.Arg301Gln | |
| ENST00000586243.5:c.902G>A | ENSP00000467240.2:p.Arg301Gln | |
| ENST00000589152.5:n.1600G>A | ||
| ENST00000591133.2:n.873G>A | ||
| NM_000455.4:c.902G>A , LRG_319t1:c.902G>A | NP_000446.1:p.Arg301Gln | |
| XM_005259617.1:c.902G>A | XP_005259674.1:p.Arg301Gln | |
| XM_005259618.3:c.902G>A | XP_005259675.1:p.Arg301Gln | |
| XM_011528209.1:c.680G>A | XP_011526511.1:p.Arg227Gln | |
| XR_936204.1:n.1678G>A | ||
| XM_005259617.3:c.902G>A | XP_005259674.1:p.Arg301Gln | |
| XM_011528209.2:c.680G>A | XP_011526511.1:p.Arg227Gln | |
| XR_001753738.2:n.1708G>A | ||
| XR_001753739.1:n.1708G>A | ||
| XR_001753740.2:n.1678G>A | ||
| NM_000455.5:c.902G>A MANE Select | NP_000446.1:p.Arg301Gln |