Linked Data
ClinVar Variation Id:
200202
dbSNP Id:
rs794728340
gnomAD v2:
15-48704794-G-C
gnomAD v3:
15-48412597-G-C
gnomAD v4:
15-48412597-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48412597G>C , CM000677.2:g.48412597G>C | GRCh38 |
| NC_000015.9:g.48704794G>C , CM000677.1:g.48704794G>C | GRCh37 |
| NC_000015.8:g.46492086G>C | NCBI36 |
| NG_008805.2:g.238192C>G , LRG_778:g.238192C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.*1006C>G | ENSP00000453958.2:n.*1006C>G | |
| ENST00000674301.2:c.*1711C>G | ENSP00000501333.2:n.*1711C>G | |
| ENST00000682158.1:n.1579C>G | ||
| ENST00000682170.1:n.2379C>G | ||
| ENST00000682767.1:n.1495C>G | ||
| ENST00000316623.10:c.8198C>G MANE Select | ENSP00000325527.5:p.Thr2733Arg | |
| ENST00000674301.1:c.3364C>G | ENSP00000501333.1:n.3364C>G | |
| ENST00000316623.9:c.8198C>G | ENSP00000325527.5:p.Thr2733Arg | |
| ENST00000559133.5:c.3567C>G | ||
| ENST00000561429.1:n.453C>G | ||
| NM_000138.4:c.8198C>G , LRG_778t1:c.8198C>G | NP_000129.3:p.Thr2733Arg | |
| NM_000138.5:c.8198C>G MANE Select | NP_000129.3:p.Thr2733Arg |