Linked Data
ClinVar Variation Id:
8767
ClinVar RCV Id:
RCV000009312
dbSNP Id:
rs121918539
gnomAD v4:
10-93635590-A-G
PubMed:
PMID:19615668
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.93635590A>G , CM000672.2:g.93635590A>G | GRCh38 |
| NC_000010.10:g.95395347A>G , CM000672.1:g.95395347A>G | GRCh37 |
| NC_000010.9:g.95385337A>G | NCBI36 |
| NG_016752.1:g.28003A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371447.4:c.1363A>G MANE Select | ENSP00000360502.3:p.Met455Val | |
| ENST00000371447.3:c.1363A>G | ENSP00000360502.3:p.Met455Val | |
| NM_006204.3:c.1363A>G | NP_006195.3:p.Met455Val | |
| NM_006204.4:c.1363A>G MANE Select | NP_006195.3:p.Met455Val |