Linked Data
ClinVar Variation Id:
42382
dbSNP Id:
rs113249837
gnomAD v4:
15-48456691-G-A
COSMIC:
COSM6045015
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48456691G>A , CM000677.2:g.48456691G>A | GRCh38 |
| NC_000015.9:g.48748888G>A , CM000677.1:g.48748888G>A | GRCh37 |
| NC_000015.8:g.46536180G>A | NCBI36 |
| NG_008805.2:g.194098C>T , LRG_778:g.194098C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.5368C>T | ENSP00000453958.2:p.Arg1790Ter | |
| ENST00000674301.2:c.5368C>T | ENSP00000501333.2:p.Arg1790Ter | |
| ENST00000684448.1:n.4042C>T | ||
| ENST00000316623.10:c.5368C>T MANE Select | ENSP00000325527.5:p.Arg1790Ter | |
| ENST00000674301.1:c.367C>T | ENSP00000501333.1:p.Arg123Ter | |
| ENST00000316623.9:c.5368C>T | ENSP00000325527.5:p.Arg1790Ter | |
| ENST00000537463.6:c.*1131C>T | ENSP00000440294.2:n.*1131C>T | |
| ENST00000559133.5:c.675C>T | ||
| NM_000138.4:c.5368C>T , LRG_778t1:c.5368C>T | NP_000129.3:p.Arg1790Ter | |
| NM_000138.5:c.5368C>T MANE Select | NP_000129.3:p.Arg1790Ter |