Revel Score:
ENST00000294304 (MANE Select)
0.950
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68403546G>A , CM000673.2:g.68403546G>A | GRCh38 |
| NC_000011.9:g.68171014G>A , CM000673.1:g.68171014G>A | GRCh37 |
| NC_000011.8:g.67927590G>A | NCBI36 |
| NG_015835.1:g.95907G>A | |
| NG_015835.2:g.95907G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000294304.12:c.1648G>A MANE Select | ENSP00000294304.6:p.Gly550Arg | |
| ENST00000294304.11:c.1648G>A | ENSP00000294304.6:p.Gly550Arg | |
| ENST00000529993.5:c.*60G>A | ENSP00000436652.1:n.*60G>A | |
| NM_001291902.1:c.-290G>A | NP_001278831.1:n.-290G>A | |
| NM_002335.3:c.1648G>A | NP_002326.2:p.Gly550Arg | |
| XM_005273994.2:c.1648G>A | XP_005274051.1:p.Gly550Arg | |
| XM_011545029.1:c.1675G>A | XP_011543331.1:p.Gly559Arg | |
| XM_011545030.1:c.1675G>A | XP_011543332.1:p.Gly559Arg | |
| XM_011545031.1:c.1675G>A | XP_011543333.1:p.Gly559Arg | |
| XR_949925.1:n.1690G>A | ||
| XR_949926.1:n.1690G>A | ||
| XR_001747874.1:n.1690G>A | ||
| XR_949925.2:n.1690G>A | ||
| XR_949926.2:n.1690G>A | ||
| NM_002335.4:c.1648G>A MANE Select | NP_002326.2:p.Gly550Arg | |
| NM_001291902.2:c.-290G>A | NP_001278831.1:n.-290G>A |