Linked Data
ClinVar Variation Id:
4491
dbSNP Id:
rs121908184
gnomAD v2:
1-26126722-A-G
gnomAD v3:
1-25800231-A-G
gnomAD v4:
1-25800231-A-G
PubMed:
PMID:12192640
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.25800231A>G , CM000663.2:g.25800231A>G | GRCh38 |
| NC_000001.10:g.26126722A>G , CM000663.1:g.26126722A>G | GRCh37 |
| NC_000001.9:g.25999309A>G | NCBI36 |
| NG_009930.1:g.5056A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354177.9:c.1A>G | ENSP00000346109.5:p.Met1Val | |
| ENST00000494537.2:c.1A>G | ENSP00000508308.1:p.Met1Val | |
| ENST00000361547.7:c.1A>G MANE Select | ENSP00000355141.2:p.Met1Val | |
| ENST00000354177.8:c.1A>G | ENSP00000346109.4:p.Met1Val | |
| ENST00000361547.6:c.1A>G | ENSP00000355141.2:p.Met1Val | |
| ENST00000374315.1:c.1A>G | ENSP00000363434.1:p.Met1Val | |
| NM_020451.2:c.1A>G | NP_065184.2:p.Met1Val | |
| NM_206926.1:c.1A>G | NP_996809.1:p.Met1Val | |
| NM_020451.3:c.1A>G MANE Select | NP_065184.2:p.Met1Val | |
| NM_206926.2:c.1A>G | NP_996809.1:p.Met1Val |