Linked Data
ClinVar Variation Id:
2573375
ClinVar RCV Id:
RCV003317711
dbSNP Id:
rs111033692
gnomAD v4:
9-34647878-A-G
PubMed:
PMID:10573007
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34647878A>G , CM000671.2:g.34647878A>G | GRCh38 |
| NC_000009.11:g.34647875A>G , CM000671.1:g.34647875A>G | GRCh37 |
| NC_000009.10:g.34637875A>G | NCBI36 |
| NG_009029.1:g.6241A>G | |
| NG_028966.1:g.694A>G | |
| NG_009029.2:g.6290A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000691183.1:c.*12A>G | ENSP00000509954.1:n.*12A>G | |
| ENST00000378842.8:c.424A>G MANE Select | ENSP00000368119.4:p.Met142Val | |
| ENST00000378842.7:c.424A>G | ENSP00000368119.3:p.Met142Val | |
| ENST00000450095.6:c.97A>G | ENSP00000401956.2:p.Met33Val | |
| ENST00000465543.6:n.763A>G | ||
| ENST00000472111.5:n.680A>G | ||
| ENST00000473506.6:c.*12A>G | ENSP00000432839.2:n.*12A>G | |
| ENST00000473529.5:n.560A>G | ||
| ENST00000485531.1:n.865A>G | ||
| ENST00000487381.5:n.809A>G | ||
| ENST00000489643.6:n.283-237A>G | ||
| ENST00000554085.5:c.*168A>G | ENSP00000450419.1:n.*168A>G | |
| ENST00000554139.5:n.603A>G | ||
| ENST00000554550.5:c.*44A>G | ENSP00000451435.1:n.*44A>G | |
| ENST00000554638.5:n.896A>G | ||
| ENST00000554897.5:c.*44A>G | ENSP00000450942.1:n.*44A>G | |
| ENST00000554944.5:n.620A>G | ||
| ENST00000555020.5:n.580A>G | ||
| ENST00000555086.5:n.428A>G | ||
| ENST00000555214.5:n.262-170A>G | ||
| ENST00000556244.1:c.411A>G | ||
| ENST00000556278.1:c.253-237A>G | ENSP00000451792.1:n.253-237A>G | |
| ENST00000556494.5:n.545A>G | ||
| ENST00000557541.5:n.568A>G | ||
| ENST00000557706.5:n.986A>G | ||
| NM_000155.3:c.424A>G | NP_000146.2:p.Met142Val | |
| NM_001258332.1:c.97A>G | NP_001245261.1:p.Met33Val | |
| NM_000155.4:c.424A>G MANE Select | NP_000146.2:p.Met142Val | |
| NM_001258332.2:c.97A>G | NP_001245261.1:p.Met33Val |