Linked Data
ClinVar Variation Id:
42422
dbSNP Id:
rs397515848
gnomAD v4:
15-48427591-G-A
COSMIC:
COSM4920426
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48427591G>A , CM000677.2:g.48427591G>A | GRCh38 |
| NC_000015.9:g.48719788G>A , CM000677.1:g.48719788G>A | GRCh37 |
| NC_000015.8:g.46507080G>A | NCBI36 |
| NG_008805.2:g.223198C>T , LRG_778:g.223198C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.7242C>T | ENSP00000453958.2:p.Ala2414= | |
| ENST00000674301.2:c.*693C>T | ENSP00000501333.2:n.*693C>T | |
| ENST00000682170.1:n.1361C>T | ||
| ENST00000682767.1:n.477C>T | ||
| ENST00000316623.10:c.7180C>T MANE Select | ENSP00000325527.5:p.Arg2394Ter | |
| ENST00000674301.1:c.2346C>T | ENSP00000501333.1:n.2346C>T | |
| ENST00000316623.9:c.7180C>T | ENSP00000325527.5:p.Arg2394Ter | |
| ENST00000559133.5:c.2549C>T | ||
| NM_000138.4:c.7180C>T , LRG_778t1:c.7180C>T | NP_000129.3:p.Arg2394Ter | |
| NM_000138.5:c.7180C>T MANE Select | NP_000129.3:p.Arg2394Ter |