Revel Score:
ENST00000450095
0.905
ENST00000378842 (MANE Select)
0.905
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000763 (NFE)
Genomes Max Group AF
0.00001171 (NFE)
Exomes Max Group AF
0.00000575 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34649502C>G , CM000671.2:g.34649502C>G | GRCh38 |
| NC_000009.11:g.34649499C>G , CM000671.1:g.34649499C>G | GRCh37 |
| NC_000009.10:g.34639499C>G | NCBI36 |
| NG_009029.1:g.7865C>G | |
| NG_028966.1:g.2318C>G | |
| NG_009029.2:g.7914C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000691183.1:c.*585C>G | ENSP00000509954.1:n.*585C>G | |
| ENST00000378842.8:c.997C>G MANE Select | ENSP00000368119.4:p.Arg333Gly | |
| ENST00000378842.7:c.997C>G | ENSP00000368119.3:p.Arg333Gly | |
| ENST00000450095.6:c.670C>G | ENSP00000401956.2:p.Arg224Gly | |
| ENST00000488412.2:n.581C>G | ||
| ENST00000489643.6:n.1405C>G | ||
| ENST00000554550.5:c.*617C>G | ENSP00000451435.1:n.*617C>G | |
| ENST00000554638.5:n.1469C>G | ||
| ENST00000555020.5:n.1786C>G | ||
| ENST00000555754.1:n.445C>G | ||
| ENST00000556278.1:c.432+1046C>G | ENSP00000451792.1:n.432+1046C>G | |
| ENST00000557706.5:n.1572C>G | ||
| NM_000155.3:c.997C>G | NP_000146.2:p.Arg333Gly | |
| NM_001258332.1:c.670C>G | NP_001245261.1:p.Arg224Gly | |
| NM_000155.4:c.997C>G MANE Select | NP_000146.2:p.Arg333Gly | |
| NM_001258332.2:c.670C>G | NP_001245261.1:p.Arg224Gly |