Linked Data
ClinVar Variation Id:
984913
dbSNP Id:
rs1305972382
gnomAD v2:
1-36028850-G-A
gnomAD v4:
1-35563249-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.35563249G>A , CM000663.2:g.35563249G>A | GRCh38 |
| NC_000001.10:g.36028850G>A , CM000663.1:g.36028850G>A | GRCh37 |
| NC_000001.9:g.35801437G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373243.7:c.1433G>A MANE Select | ENSP00000362340.2:p.Arg478Gln | |
| ENST00000356090.8:c.1433G>A | ENSP00000348394.4:p.Arg478Gln | |
| ENST00000373243.6:c.1433G>A | ENSP00000362340.2:p.Arg478Gln | |
| ENST00000373253.7:c.1382G>A | ENSP00000362350.3:p.Arg461Gln | |
| ENST00000423723.1:c.214G>A | ||
| NM_001014839.1:c.1433G>A | NP_001014839.1:p.Arg478Gln | |
| NM_001014841.1:c.1382G>A | NP_001014841.1:p.Arg461Gln | |
| NM_014284.2:c.1433G>A | NP_055099.1:p.Arg478Gln | |
| NM_014284.3:c.1433G>A MANE Select | NP_055099.1:p.Arg478Gln | |
| NM_001014839.2:c.1433G>A | NP_001014839.1:p.Arg478Gln | |
| NM_001014841.2:c.1382G>A | NP_001014841.1:p.Arg461Gln |