Linked Data
ClinVar Variation Id:
25112
ClinVar RCV Id:
RCV000022038
dbSNP Id:
rs111033639
gnomAD v4:
9-34646705-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34646705A>G , CM000671.2:g.34646705A>G | GRCh38 |
| NC_000009.11:g.34646702A>G , CM000671.1:g.34646702A>G | GRCh37 |
| NC_000009.10:g.34636702A>G | NCBI36 |
| NG_009029.1:g.5068A>G | |
| NG_009029.2:g.5117A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000691183.1:c.1A>G | ENSP00000509954.1:p.Met1Val | |
| ENST00000378842.8:c.1A>G MANE Select | ENSP00000368119.4:p.Met1Val | |
| ENST00000378842.7:c.1A>G | ENSP00000368119.3:p.Met1Val | |
| ENST00000450095.6:c.-202A>G | ENSP00000401956.2:n.-202A>G | |
| ENST00000465543.6:n.38A>G | ||
| ENST00000468099.2:n.73A>G | ||
| ENST00000472111.5:n.42A>G | ||
| ENST00000473506.6:c.1A>G | ENSP00000432839.2:p.Met1Val | |
| ENST00000473529.5:n.48A>G | ||
| ENST00000487381.5:n.27A>G | ||
| ENST00000489643.6:n.31A>G | ||
| ENST00000554085.5:c.1A>G | ENSP00000450419.1:p.Met1Val | |
| ENST00000554139.5:n.54A>G | ||
| ENST00000554550.5:c.1A>G | ENSP00000451435.1:p.Met1Val | |
| ENST00000554638.5:n.25A>G | ||
| ENST00000554897.5:c.1A>G | ENSP00000450942.1:p.Met1Val | |
| ENST00000554944.5:n.31A>G | ||
| ENST00000555020.5:n.31A>G | ||
| ENST00000555214.5:n.10A>G | ||
| ENST00000556278.1:c.1A>G | ENSP00000451792.1:p.Met1Val | |
| ENST00000557541.5:n.61A>G | ||
| ENST00000605275.1:n.237A>G | ||
| NM_000155.3:c.1A>G | NP_000146.2:p.Met1Val | |
| NM_001258332.1:c.-202A>G | NP_001245261.1:n.-202A>G | |
| NM_000155.4:c.1A>G MANE Select | NP_000146.2:p.Met1Val | |
| NM_001258332.2:c.-202A>G | NP_001245261.1:n.-202A>G |