Linked Data
ClinVar Variation Id:
2034657
ClinVar RCV Id:
RCV002868051
MyVariant Identifiers:
chr9:g.34648153C>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34648156C>A , CM000671.2:g.34648156C>A | GRCh38 |
| NC_000009.11:g.34648153C>A , CM000671.1:g.34648153C>A | GRCh37 |
| NC_000009.10:g.34638153C>A | NCBI36 |
| NG_009029.1:g.6519C>A | |
| NG_028966.1:g.972C>A | |
| NG_009029.2:g.6568C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000691183.1:c.*137C>A | ENSP00000509954.1:n.*137C>A | |
| ENST00000378842.8:c.549C>A MANE Select | ENSP00000368119.4:p.Pro183= | |
| ENST00000378842.7:c.549C>A | ENSP00000368119.3:p.Pro183= | |
| ENST00000450095.6:c.222C>A | ENSP00000401956.2:p.Pro74= | |
| ENST00000465543.6:n.888C>A | ||
| ENST00000472111.5:n.805C>A | ||
| ENST00000473506.6:c.*137C>A | ENSP00000432839.2:n.*137C>A | |
| ENST00000473529.5:n.708C>A | ||
| ENST00000485531.1:n.1143C>A | ||
| ENST00000487381.5:n.934C>A | ||
| ENST00000489643.6:n.324C>A | ||
| ENST00000554085.5:c.*293C>A | ENSP00000450419.1:n.*293C>A | |
| ENST00000554139.5:n.795C>A | ||
| ENST00000554550.5:c.*169C>A | ENSP00000451435.1:n.*169C>A | |
| ENST00000554638.5:n.1021C>A | ||
| ENST00000554897.5:c.*236C>A | ENSP00000450942.1:n.*236C>A | |
| ENST00000554944.5:n.898C>A | ||
| ENST00000555020.5:n.705C>A | ||
| ENST00000555086.5:n.553C>A | ||
| ENST00000555214.5:n.370C>A | ||
| ENST00000556244.1:c.536C>A | ||
| ENST00000556278.1:c.294C>A | ENSP00000451792.1:p.Pro98= | |
| ENST00000556494.5:n.670C>A | ||
| ENST00000557706.5:n.1111C>A | ||
| NM_000155.3:c.549C>A | NP_000146.2:p.Pro183= | |
| NM_001258332.1:c.222C>A | NP_001245261.1:p.Pro74= | |
| NM_000155.4:c.549C>A MANE Select | NP_000146.2:p.Pro183= | |
| NM_001258332.2:c.222C>A | NP_001245261.1:p.Pro74= |