Linked Data
ClinVar Variation Id:
6686
ClinVar RCV Id:
RCV000007074
dbSNP Id:
rs121908950
gnomAD v4:
10-87743589-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87743589C>A , CM000672.2:g.87743589C>A | GRCh38 |
| NC_000010.10:g.89503346C>A , CM000672.1:g.89503346C>A | GRCh37 |
| NC_000010.9:g.89493326C>A | NCBI36 |
| NG_012150.1:g.88871C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000456849.2:c.1439C>A MANE Select | ENSP00000406157.1:p.Ser480Ter | |
| ENST00000361175.8:c.1424C>A | ENSP00000354436.4:p.Ser475Ter | |
| ENST00000456849.1:c.1439C>A | ENSP00000406157.1:p.Ser480Ter | |
| NM_001015880.1:c.1439C>A | NP_001015880.1:p.Ser480Ter | |
| NM_004670.3:c.1424C>A | NP_004661.2:p.Ser475Ter | |
| NM_001015880.2:c.1439C>A MANE Select | NP_001015880.1:p.Ser480Ter | |
| NM_004670.4:c.1424C>A | NP_004661.2:p.Ser475Ter |