Revel Score:
ENST00000553106 (MANE Select)
0.850
ENST00000307000
0.850
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102846929C>G , CM000674.2:g.102846929C>G | GRCh38 |
| NC_000012.11:g.103240707C>G , CM000674.1:g.103240707C>G | GRCh37 |
| NC_000012.10:g.101764837C>G | NCBI36 |
| NG_008690.1:g.75674G>C | |
| NG_008690.2:g.116482G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.935G>C MANE Select | ENSP00000448059.1:p.Gly312Ala | |
| ENST00000307000.7:c.920G>C | ENSP00000303500.2:p.Gly307Ala | |
| ENST00000549247.6:n.694G>C | ||
| ENST00000551114.2:n.597G>C | ||
| ENST00000553106.5:c.935G>C | ENSP00000448059.1:p.Gly312Ala | |
| ENST00000635477.1:c.74-2498G>C | ||
| ENST00000635528.1:n.450G>C | ||
| NM_000277.1:c.935G>C | NP_000268.1:p.Gly312Ala | |
| XM_011538422.1:c.913-2498G>C | XP_011536724.1:n.913-2498G>C | |
| NM_000277.2:c.935G>C | NP_000268.1:p.Gly312Ala | |
| NM_001354304.1:c.935G>C | NP_001341233.1:p.Gly312Ala | |
| NM_000277.3:c.935G>C MANE Select | NP_000268.1:p.Gly312Ala | |
| NM_001354304.2:c.935G>C | NP_001341233.1:p.Gly312Ala |