Linked Data
ClinVar Variation Id:
25135
ClinVar RCV Id:
RCV000767308
dbSNP Id:
rs111033656
PubMed:
PMID:15633893
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34647203C>A , CM000671.2:g.34647203C>A | GRCh38 |
| NC_000009.11:g.34647200C>A , CM000671.1:g.34647200C>A | GRCh37 |
| NC_000009.10:g.34637200C>A | NCBI36 |
| NG_009029.1:g.5566C>A | |
| NG_028966.1:g.19C>A | |
| NG_009029.2:g.5615C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000691183.1:c.197C>A | ENSP00000509954.1:p.Pro66His | |
| ENST00000378842.8:c.197C>A MANE Select | ENSP00000368119.4:p.Pro66His | |
| ENST00000378842.7:c.197C>A | ENSP00000368119.3:p.Pro66His | |
| ENST00000450095.6:c.-6C>A | ENSP00000401956.2:n.-6C>A | |
| ENST00000465543.6:n.536C>A | ||
| ENST00000468099.2:n.237C>A | ||
| ENST00000472111.5:n.238C>A | ||
| ENST00000473506.6:c.197C>A | ENSP00000432839.2:p.Pro66His | |
| ENST00000473529.5:n.244C>A | ||
| ENST00000485531.1:n.190C>A | ||
| ENST00000487381.5:n.223C>A | ||
| ENST00000489643.6:n.227C>A | ||
| ENST00000554085.5:c.197C>A | ENSP00000450419.1:p.Pro66His | |
| ENST00000554139.5:n.250C>A | ||
| ENST00000554330.5:n.194C>A | ||
| ENST00000554550.5:c.197C>A | ENSP00000451435.1:p.Pro66His | |
| ENST00000554638.5:n.221C>A | ||
| ENST00000554897.5:c.197C>A | ENSP00000450942.1:p.Pro66His | |
| ENST00000554944.5:n.227C>A | ||
| ENST00000555020.5:n.227C>A | ||
| ENST00000555086.5:n.201C>A | ||
| ENST00000555214.5:n.206C>A | ||
| ENST00000556157.1:n.304C>A | ||
| ENST00000556244.1:c.81C>A | ||
| ENST00000556278.1:c.197C>A | ENSP00000451792.1:p.Pro66His | |
| ENST00000556403.5:n.210C>A | ||
| ENST00000556494.5:n.229C>A | ||
| ENST00000557541.5:n.390C>A | ||
| ENST00000557706.5:n.311C>A | ||
| NM_000155.3:c.197C>A | NP_000146.2:p.Pro66His | |
| NM_001258332.1:c.-6C>A | NP_001245261.1:n.-6C>A | |
| NM_000155.4:c.197C>A MANE Select | NP_000146.2:p.Pro66His | |
| NM_001258332.2:c.-6C>A | NP_001245261.1:n.-6C>A |