Linked Data
ClinVar Variation Id:
2024034
ClinVar RCV Id:
RCV002876000
dbSNP Id:
rs773785908
gnomAD v2:
15-48720650-G-C
gnomAD v4:
15-48428453-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48428453G>C , CM000677.2:g.48428453G>C | GRCh38 |
| NC_000015.9:g.48720650G>C , CM000677.1:g.48720650G>C | GRCh37 |
| NC_000015.8:g.46507942G>C | NCBI36 |
| NG_008805.2:g.222336C>G , LRG_778:g.222336C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.6890C>G | ENSP00000453958.2:p.Thr2297Arg | |
| ENST00000674301.2:c.*341C>G | ENSP00000501333.2:n.*341C>G | |
| ENST00000682170.1:n.499C>G | ||
| ENST00000682767.1:n.125C>G | ||
| ENST00000316623.10:c.6890C>G MANE Select | ENSP00000325527.5:p.Thr2297Arg | |
| ENST00000674301.1:c.1994C>G | ENSP00000501333.1:n.1994C>G | |
| ENST00000316623.9:c.6890C>G | ENSP00000325527.5:p.Thr2297Arg | |
| ENST00000559133.5:c.2197C>G | ||
| ENST00000560720.1:n.177C>G | ||
| NM_000138.4:c.6890C>G , LRG_778t1:c.6890C>G | NP_000129.3:p.Thr2297Arg | |
| NM_000138.5:c.6890C>G MANE Select | NP_000129.3:p.Thr2297Arg |