Revel Score:
ENST00000361727 (MANE Select)
0.567
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.147300239C>G , CM000669.2:g.147300239C>G | GRCh38 |
| NC_000007.13:g.146997331C>G , CM000669.1:g.146997331C>G | GRCh37 |
| NC_000007.12:g.146628264C>G | NCBI36 |
| NG_007092.2:g.1188879C>G | |
| NG_007092.3:g.1189239C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361727.8:c.1447C>G MANE Select | ENSP00000354778.3:p.Arg483Gly | |
| ENST00000636870.1:n.1309C>G | ||
| ENST00000637694.1:n.1350C>G | ||
| ENST00000637825.1:n.930C>G | ||
| ENST00000638117.1:n.1350C>G | ||
| ENST00000361727.7:c.1447C>G | ENSP00000354778.3:p.Arg483Gly | |
| NM_014141.5:c.1447C>G | NP_054860.1:p.Arg483Gly | |
| XM_006715919.1:c.-66C>G | XP_006715982.1:n.-66C>G | |
| XM_017011950.2:c.1447C>G | XP_016867439.1:p.Arg483Gly | |
| NM_014141.6:c.1447C>G MANE Select | NP_054860.1:p.Arg483Gly |