Revel Score:
ENST00000450095
0.958
ENST00000378842 (MANE Select)
0.958
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34647867C>G , CM000671.2:g.34647867C>G | GRCh38 |
| NC_000009.11:g.34647864C>G , CM000671.1:g.34647864C>G | GRCh37 |
| NC_000009.10:g.34637864C>G | NCBI36 |
| NG_009029.1:g.6230C>G | |
| NG_028966.1:g.683C>G | |
| NG_009029.2:g.6279C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000691183.1:c.*1C>G | ENSP00000509954.1:n.*1C>G | |
| ENST00000378842.8:c.413C>G MANE Select | ENSP00000368119.4:p.Thr138Arg | |
| ENST00000378842.7:c.413C>G | ENSP00000368119.3:p.Thr138Arg | |
| ENST00000450095.6:c.86C>G | ENSP00000401956.2:p.Thr29Arg | |
| ENST00000465543.6:n.752C>G | ||
| ENST00000472111.5:n.669C>G | ||
| ENST00000473506.6:c.*1C>G | ENSP00000432839.2:n.*1C>G | |
| ENST00000473529.5:n.549C>G | ||
| ENST00000485531.1:n.854C>G | ||
| ENST00000487381.5:n.798C>G | ||
| ENST00000489643.6:n.283-248C>G | ||
| ENST00000554085.5:c.*157C>G | ENSP00000450419.1:n.*157C>G | |
| ENST00000554139.5:n.592C>G | ||
| ENST00000554550.5:c.*33C>G | ENSP00000451435.1:n.*33C>G | |
| ENST00000554638.5:n.885C>G | ||
| ENST00000554897.5:c.*33C>G | ENSP00000450942.1:n.*33C>G | |
| ENST00000554944.5:n.609C>G | ||
| ENST00000555020.5:n.569C>G | ||
| ENST00000555086.5:n.417C>G | ||
| ENST00000555214.5:n.262-181C>G | ||
| ENST00000556244.1:c.400C>G | ||
| ENST00000556278.1:c.253-248C>G | ENSP00000451792.1:n.253-248C>G | |
| ENST00000556494.5:n.534C>G | ||
| ENST00000557541.5:n.557C>G | ||
| ENST00000557706.5:n.975C>G | ||
| NM_000155.3:c.413C>G | NP_000146.2:p.Thr138Arg | |
| NM_001258332.1:c.86C>G | NP_001245261.1:p.Thr29Arg | |
| NM_000155.4:c.413C>G MANE Select | NP_000146.2:p.Thr138Arg | |
| NM_001258332.2:c.86C>G | NP_001245261.1:p.Thr29Arg |