Linked Data
ClinVar Variation Id:
3624
ClinVar RCV Id:
RCV000003808
dbSNP Id:
rs111033726
gnomAD v4:
9-34648349-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34648349T>C , CM000671.2:g.34648349T>C | GRCh38 |
| NC_000009.11:g.34648346T>C , CM000671.1:g.34648346T>C | GRCh37 |
| NC_000009.10:g.34638346T>C | NCBI36 |
| NG_009029.1:g.6712T>C | |
| NG_028966.1:g.1165T>C | |
| NG_009029.2:g.6761T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000691183.1:c.*168T>C | ENSP00000509954.1:n.*168T>C | |
| ENST00000378842.8:c.580T>C MANE Select | ENSP00000368119.4:p.Phe194Leu | |
| ENST00000378842.7:c.580T>C | ENSP00000368119.3:p.Phe194Leu | |
| ENST00000450095.6:c.253T>C | ENSP00000401956.2:p.Phe85Leu | |
| ENST00000472111.5:n.836T>C | ||
| ENST00000473506.6:c.*168T>C | ENSP00000432839.2:n.*168T>C | |
| ENST00000473529.5:n.739T>C | ||
| ENST00000485531.1:n.1174T>C | ||
| ENST00000487381.5:n.965T>C | ||
| ENST00000489643.6:n.355T>C | ||
| ENST00000554085.5:c.*324T>C | ENSP00000450419.1:n.*324T>C | |
| ENST00000554139.5:n.826T>C | ||
| ENST00000554550.5:c.*200T>C | ENSP00000451435.1:n.*200T>C | |
| ENST00000554638.5:n.1052T>C | ||
| ENST00000554897.5:c.*267T>C | ENSP00000450942.1:n.*267T>C | |
| ENST00000554944.5:n.929T>C | ||
| ENST00000555020.5:n.736T>C | ||
| ENST00000555086.5:n.584T>C | ||
| ENST00000555214.5:n.401T>C | ||
| ENST00000556244.1:c.567T>C | ||
| ENST00000556278.1:c.325T>C | ENSP00000451792.1:p.Phe109Leu | |
| ENST00000556494.5:n.701T>C | ||
| ENST00000557706.5:n.1142T>C | ||
| NM_000155.3:c.580T>C | NP_000146.2:p.Phe194Leu | |
| NM_001258332.1:c.253T>C | NP_001245261.1:p.Phe85Leu | |
| NM_000155.4:c.580T>C MANE Select | NP_000146.2:p.Phe194Leu | |
| NM_001258332.2:c.253T>C | NP_001245261.1:p.Phe85Leu |