Linked Data
ClinVar Variation Id:
2778548
ClinVar RCV Id:
RCV003661551
gnomAD v4:
10-122461661-C-A
MyVariant Identifiers:
chr10:g.124221177C>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.122461661C>A , CM000672.2:g.122461661C>A | GRCh38 |
| NC_000010.10:g.124221177C>A , CM000672.1:g.124221177C>A | GRCh37 |
| NC_000010.9:g.124211167C>A | NCBI36 |
| NG_011554.1:g.5137C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000368984.8:c.9C>A MANE Select | ENSP00000357980.3:p.Ile3= | |
| ENST00000648167.1:c.154+2952C>A | ENSP00000498033.1:n.154+2952C>A | |
| ENST00000368984.7:c.9C>A | ENSP00000357980.3:p.Ile3= | |
| NM_002775.4:c.9C>A | NP_002766.1:p.Ile3= | |
| NM_002775.5:c.9C>A MANE Select | NP_002766.1:p.Ile3= |