Linked Data
ClinVar Variation Id:
42366
dbSNP Id:
rs111231312
gnomAD v4:
15-48468070-G-A
COSMIC:
COSM1708132
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48468070G>A , CM000677.2:g.48468070G>A | GRCh38 |
| NC_000015.9:g.48760267G>A , CM000677.1:g.48760267G>A | GRCh37 |
| NC_000015.8:g.46547559G>A | NCBI36 |
| NG_008805.2:g.182719C>T , LRG_778:g.182719C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000559133.6:c.4615C>T | ENSP00000453958.2:p.Arg1539Ter | |
| ENST00000674301.2:c.4615C>T | ENSP00000501333.2:p.Arg1539Ter | |
| ENST00000684448.1:n.3289C>T | ||
| ENST00000316623.10:c.4615C>T MANE Select | ENSP00000325527.5:p.Arg1539Ter | |
| ENST00000316623.9:c.4615C>T | ENSP00000325527.5:p.Arg1539Ter | |
| ENST00000537463.6:c.*378C>T | ENSP00000440294.2:n.*378C>T | |
| NM_000138.4:c.4615C>T , LRG_778t1:c.4615C>T | NP_000129.3:p.Arg1539Ter | |
| NM_000138.5:c.4615C>T MANE Select | NP_000129.3:p.Arg1539Ter |