Linked Data
ClinVar Variation Id:
15645
dbSNP Id:
rs121909803
gnomAD v4:
16-172913-A-G
PubMed:
PMID:3620699
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.172913A>G , CM000678.2:g.172913A>G | GRCh38 |
| NC_000016.9:g.222912A>G , CM000678.1:g.222912A>G | GRCh37 |
| NC_000016.8:g.162912A>G | NCBI36 |
| NG_000006.1:g.33776A>G | |
| NG_059186.1:g.1263A>G | |
| NG_059271.1:g.5067A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000251595.11:c.1A>G MANE Select | ENSP00000251595.6:p.Met1Val | |
| ENST00000251595.10:c.1A>G | ENSP00000251595.6:p.Met1Val | |
| ENST00000397806.1:c.-47A>G | ENSP00000380908.1:n.-47A>G | |
| ENST00000482565.1:n.20A>G | ||
| NM_000517.4:c.1A>G | NP_000508.1:p.Met1Val | |
| NM_000517.6:c.1A>G MANE Select | NP_000508.1:p.Met1Val |