Linked Data
ClinVar Variation Id:
1476716
dbSNP Id:
rs1343260515
gnomAD v2:
15-85383493-G-A
gnomAD v3:
15-84840262-G-A
gnomAD v4:
15-84840262-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.84840262G>A , CM000677.2:g.84840262G>A | GRCh38 |
| NC_000015.9:g.85383493G>A , CM000677.1:g.85383493G>A | GRCh37 |
| NC_000015.8:g.83184497G>A | NCBI36 |
| NG_054748.1:g.28632G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258888.6:c.983G>A MANE Select | ENSP00000258888.6:p.Arg328Gln | |
| ENST00000258888.5:c.1589G>A | ENSP00000258888.5:p.Arg530Gln | |
| NM_020778.4:c.1589G>A | NP_065829.3:p.Arg530Gln | |
| NM_020778.5:c.983G>A MANE Select | NP_065829.4:p.Arg328Gln |