Revel Score:
ENST00000378842 (MANE Select)
0.977
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34647522T>C , CM000671.2:g.34647522T>C | GRCh38 |
| NC_000009.11:g.34647519T>C , CM000671.1:g.34647519T>C | GRCh37 |
| NC_000009.10:g.34637519T>C | NCBI36 |
| NG_009029.1:g.5885T>C | |
| NG_028966.1:g.338T>C | |
| NG_009029.2:g.5934T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000691183.1:c.283T>C | ENSP00000509954.1:p.Phe95Leu | |
| ENST00000378842.8:c.283T>C MANE Select | ENSP00000368119.4:p.Phe95Leu | |
| ENST00000378842.7:c.283T>C | ENSP00000368119.3:p.Phe95Leu | |
| ENST00000450095.6:c.50+264T>C | ENSP00000401956.2:n.50+264T>C | |
| ENST00000465543.6:n.622T>C | ||
| ENST00000472111.5:n.324T>C | ||
| ENST00000473506.6:c.253-19T>C | ENSP00000432839.2:n.253-19T>C | |
| ENST00000473529.5:n.330T>C | ||
| ENST00000485531.1:n.509T>C | ||
| ENST00000487381.5:n.542T>C | ||
| ENST00000489643.6:n.282+264T>C | ||
| ENST00000554085.5:c.*27T>C | ENSP00000450419.1:n.*27T>C | |
| ENST00000554139.5:n.336T>C | ||
| ENST00000554330.5:n.250-19T>C | ||
| ENST00000554550.5:c.252+264T>C | ENSP00000451435.1:n.252+264T>C | |
| ENST00000554638.5:n.540T>C | ||
| ENST00000554897.5:c.252+264T>C | ENSP00000450942.1:n.252+264T>C | |
| ENST00000554944.5:n.283-19T>C | ||
| ENST00000555020.5:n.313T>C | ||
| ENST00000555086.5:n.287T>C | ||
| ENST00000555214.5:n.261+264T>C | ||
| ENST00000556157.1:n.407T>C | ||
| ENST00000556244.1:c.270T>C | ||
| ENST00000556278.1:c.252+264T>C | ENSP00000451792.1:n.252+264T>C | |
| ENST00000556403.5:n.296T>C | ||
| ENST00000556494.5:n.315T>C | ||
| ENST00000557541.5:n.446-19T>C | ||
| ENST00000557706.5:n.630T>C | ||
| NM_000155.3:c.283T>C | NP_000146.2:p.Phe95Leu | |
| NM_001258332.1:c.50+264T>C | NP_001245261.1:n.50+264T>C | |
| NM_000155.4:c.283T>C MANE Select | NP_000146.2:p.Phe95Leu | |
| NM_001258332.2:c.50+264T>C | NP_001245261.1:n.50+264T>C |