Linked Data
ClinVar Variation Id:
2124466
ClinVar RCV Id:
RCV003039627
MyVariant Identifiers:
chr9:g.34648360T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34648363T>C , CM000671.2:g.34648363T>C | GRCh38 |
| NC_000009.11:g.34648360T>C , CM000671.1:g.34648360T>C | GRCh37 |
| NC_000009.10:g.34638360T>C | NCBI36 |
| NG_009029.1:g.6726T>C | |
| NG_028966.1:g.1179T>C | |
| NG_009029.2:g.6775T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000691183.1:c.*182T>C | ENSP00000509954.1:n.*182T>C | |
| ENST00000378842.8:c.594T>C MANE Select | ENSP00000368119.4:p.Ile198= | |
| ENST00000378842.7:c.594T>C | ENSP00000368119.3:p.Ile198= | |
| ENST00000450095.6:c.267T>C | ENSP00000401956.2:p.Ile89= | |
| ENST00000472111.5:n.850T>C | ||
| ENST00000473506.6:c.*182T>C | ENSP00000432839.2:n.*182T>C | |
| ENST00000473529.5:n.753T>C | ||
| ENST00000485531.1:n.1188T>C | ||
| ENST00000487381.5:n.979T>C | ||
| ENST00000489643.6:n.369T>C | ||
| ENST00000554085.5:c.*338T>C | ENSP00000450419.1:n.*338T>C | |
| ENST00000554139.5:n.840T>C | ||
| ENST00000554550.5:c.*214T>C | ENSP00000451435.1:n.*214T>C | |
| ENST00000554638.5:n.1066T>C | ||
| ENST00000554897.5:c.*281T>C | ENSP00000450942.1:n.*281T>C | |
| ENST00000554944.5:n.943T>C | ||
| ENST00000555020.5:n.750T>C | ||
| ENST00000555086.5:n.598T>C | ||
| ENST00000555214.5:n.415T>C | ||
| ENST00000556244.1:c.581T>C | ||
| ENST00000556278.1:c.339T>C | ENSP00000451792.1:p.Ile113= | |
| ENST00000556494.5:n.715T>C | ||
| ENST00000557706.5:n.1156T>C | ||
| NM_000155.3:c.594T>C | NP_000146.2:p.Ile198= | |
| NM_001258332.1:c.267T>C | NP_001245261.1:p.Ile89= | |
| NM_000155.4:c.594T>C MANE Select | NP_000146.2:p.Ile198= | |
| NM_001258332.2:c.267T>C | NP_001245261.1:p.Ile89= |