Linked Data
ClinVar Variation Id:
200133
dbSNP Id:
rs794728286
gnomAD v3:
15-48411145-T-G
gnomAD v4:
15-48411145-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48411145T>G , CM000677.2:g.48411145T>G | GRCh38 |
| NC_000015.9:g.48703342T>G , CM000677.1:g.48703342T>G | GRCh37 |
| NC_000015.8:g.46490634T>G | NCBI36 |
| NG_008805.2:g.239644A>C , LRG_778:g.239644A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.*1269A>C | ENSP00000453958.2:n.*1269A>C | |
| ENST00000674301.2:c.*1974A>C | ENSP00000501333.2:n.*1974A>C | |
| ENST00000682158.1:n.1842A>C | ||
| ENST00000682170.1:n.2642A>C | ||
| ENST00000682767.1:n.1758A>C | ||
| ENST00000316623.10:c.8461A>C MANE Select | ENSP00000325527.5:p.Lys2821Gln | |
| ENST00000674301.1:c.3627A>C | ENSP00000501333.1:n.3627A>C | |
| ENST00000316623.9:c.8461A>C | ENSP00000325527.5:p.Lys2821Gln | |
| ENST00000559133.5:c.3830A>C | ||
| NM_000138.4:c.8461A>C , LRG_778t1:c.8461A>C | NP_000129.3:p.Lys2821Gln | |
| NM_000138.5:c.8461A>C MANE Select | NP_000129.3:p.Lys2821Gln |