Revel Score:
ENST00000155840 (MANE Select)
0.806
ENST00000335475
0.806
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2777990C>A , CM000673.2:g.2777990C>A | GRCh38 |
| NC_000011.9:g.2799220C>A , CM000673.1:g.2799220C>A | GRCh37 |
| NC_000011.8:g.2755796C>A | NCBI36 |
| NG_008935.1:g.338000C>A , LRG_287:g.338000C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.1390C>A | ENSP00000434560.2:p.Arg464Ser | |
| ENST00000646564.2:c.1207C>A | ENSP00000495806.2:p.Arg403Ser | |
| ENST00000155840.12:c.1747C>A MANE Select | ENSP00000155840.2:p.Arg583Ser | |
| ENST00000335475.6:c.1366C>A | ENSP00000334497.5:p.Arg456Ser | |
| ENST00000526095.2:c.151C>A | ENSP00000494939.1:p.Arg51Ser | |
| ENST00000646564.1:c.853C>A | ENSP00000495806.1:p.Arg285Ser | |
| ENST00000155840.9:c.1747C>A | ENSP00000155840.2:p.Arg583Ser | |
| ENST00000335475.5:c.1366C>A | ENSP00000334497.5:p.Arg456Ser | |
| ENST00000526095.1:n.254C>A | ||
| NM_000218.2:c.1747C>A , LRG_287t1:c.1747C>A | NP_000209.2:p.Arg583Ser | |
| NM_181798.1:c.1366C>A , LRG_287t2:c.1366C>A | NP_861463.1:p.Arg456Ser | |
| NM_000218.3:c.1747C>A MANE Select | NP_000209.2:p.Arg583Ser |