Linked Data
ClinVar Variation Id:
4039
ClinVar RCV Id:
RCV000004254
dbSNP Id:
rs137852932
gnomAD v4:
11-130159982-G-A
PubMed:
PMID:18445049
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.130159982G>A , CM000673.2:g.130159982G>A | GRCh38 |
| NC_000011.9:g.130029877G>A , CM000673.1:g.130029877G>A | GRCh37 |
| NC_000011.8:g.129535087G>A | NCBI36 |
| NG_012132.1:g.5196G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000278742.6:c.3G>A MANE Select | ENSP00000278742.5:p.Met1Ile | |
| ENST00000278742.5:c.3G>A | ENSP00000278742.5:p.Met1Ile | |
| NM_021978.3:c.3G>A | NP_068813.1:p.Met1Ile | |
| NM_021978.4:c.3G>A MANE Select | NP_068813.1:p.Met1Ile |