Revel Score:
ENST00000553106 (MANE Select)
0.776
ENST00000307000
0.776
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102846918C>G , CM000674.2:g.102846918C>G | GRCh38 |
| NC_000012.11:g.103240696C>G , CM000674.1:g.103240696C>G | GRCh37 |
| NC_000012.10:g.101764826C>G | NCBI36 |
| NG_008690.1:g.75685G>C | |
| NG_008690.2:g.116493G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.946G>C MANE Select | ENSP00000448059.1:p.Glu316Gln | |
| ENST00000307000.7:c.931G>C | ENSP00000303500.2:p.Glu311Gln | |
| ENST00000549247.6:n.705G>C | ||
| ENST00000551114.2:n.608G>C | ||
| ENST00000553106.5:c.946G>C | ENSP00000448059.1:p.Glu316Gln | |
| ENST00000635477.1:c.74-2487G>C | ||
| ENST00000635528.1:n.461G>C | ||
| NM_000277.1:c.946G>C | NP_000268.1:p.Glu316Gln | |
| XM_011538422.1:c.913-2487G>C | XP_011536724.1:n.913-2487G>C | |
| NM_000277.2:c.946G>C | NP_000268.1:p.Glu316Gln | |
| NM_001354304.1:c.946G>C | NP_001341233.1:p.Glu316Gln | |
| NM_000277.3:c.946G>C MANE Select | NP_000268.1:p.Glu316Gln | |
| NM_001354304.2:c.946G>C | NP_001341233.1:p.Glu316Gln |