Linked Data
ClinVar Variation Id:
25147
ClinVar RCV Id:
RCV000022078
dbSNP Id:
rs111033674
gnomAD v2:
9-34647692-C-G
gnomAD v3:
9-34647695-C-G
gnomAD v4:
9-34647695-C-G
PubMed:
PMID:11261429
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34647695C>G , CM000671.2:g.34647695C>G | GRCh38 |
| NC_000009.11:g.34647692C>G , CM000671.1:g.34647692C>G | GRCh37 |
| NC_000009.10:g.34637692C>G | NCBI36 |
| NG_009029.1:g.6058C>G | |
| NG_028966.1:g.511C>G | |
| NG_009029.2:g.6107C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000691183.1:c.328+128C>G | ENSP00000509954.1:n.328+128C>G | |
| ENST00000378842.8:c.367C>G MANE Select | ENSP00000368119.4:p.Arg123Gly | |
| ENST00000378842.7:c.367C>G | ENSP00000368119.3:p.Arg123Gly | |
| ENST00000450095.6:c.51-137C>G | ENSP00000401956.2:n.51-137C>G | |
| ENST00000465543.6:n.706C>G | ||
| ENST00000472111.5:n.497C>G | ||
| ENST00000473506.6:c.318C>G | ENSP00000432839.2:p.Leu106= | |
| ENST00000473529.5:n.503C>G | ||
| ENST00000485531.1:n.682C>G | ||
| ENST00000487381.5:n.626C>G | ||
| ENST00000489643.6:n.283-420C>G | ||
| ENST00000554085.5:c.*111C>G | ENSP00000450419.1:n.*111C>G | |
| ENST00000554139.5:n.420C>G | ||
| ENST00000554330.5:n.404C>G | ||
| ENST00000554550.5:c.253-137C>G | ENSP00000451435.1:n.253-137C>G | |
| ENST00000554638.5:n.713C>G | ||
| ENST00000554897.5:c.253-137C>G | ENSP00000450942.1:n.253-137C>G | |
| ENST00000554944.5:n.437C>G | ||
| ENST00000555020.5:n.397C>G | ||
| ENST00000555086.5:n.371C>G | ||
| ENST00000555214.5:n.262-353C>G | ||
| ENST00000556157.1:n.491C>G | ||
| ENST00000556244.1:c.354C>G | ||
| ENST00000556278.1:c.253-420C>G | ENSP00000451792.1:n.253-420C>G | |
| ENST00000556403.5:n.469C>G | ||
| ENST00000556494.5:n.488C>G | ||
| ENST00000557541.5:n.511C>G | ||
| ENST00000557706.5:n.803C>G | ||
| NM_000155.3:c.367C>G | NP_000146.2:p.Arg123Gly | |
| NM_001258332.1:c.51-137C>G | NP_001245261.1:n.51-137C>G | |
| NM_000155.4:c.367C>G MANE Select | NP_000146.2:p.Arg123Gly | |
| NM_001258332.2:c.51-137C>G | NP_001245261.1:n.51-137C>G |