Revel Score:
ENST00000553106 (MANE Select)
0.918
ENST00000307000
0.918
gnomAD v2:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102846930C>T , CM000674.2:g.102846930C>T | GRCh38 |
| NC_000012.11:g.103240708C>T , CM000674.1:g.103240708C>T | GRCh37 |
| NC_000012.10:g.101764838C>T | NCBI36 |
| NG_008690.1:g.75673G>A | |
| NG_008690.2:g.116481G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.934G>A MANE Select | ENSP00000448059.1:p.Gly312Ser | |
| ENST00000307000.7:c.919G>A | ENSP00000303500.2:p.Gly307Ser | |
| ENST00000549247.6:n.693G>A | ||
| ENST00000551114.2:n.596G>A | ||
| ENST00000553106.5:c.934G>A | ENSP00000448059.1:p.Gly312Ser | |
| ENST00000635477.1:c.74-2499G>A | ||
| ENST00000635528.1:n.449G>A | ||
| NM_000277.1:c.934G>A | NP_000268.1:p.Gly312Ser | |
| XM_011538422.1:c.913-2499G>A | XP_011536724.1:n.913-2499G>A | |
| NM_000277.2:c.934G>A | NP_000268.1:p.Gly312Ser | |
| NM_001354304.1:c.934G>A | NP_001341233.1:p.Gly312Ser | |
| NM_000277.3:c.934G>A MANE Select | NP_000268.1:p.Gly312Ser | |
| NM_001354304.2:c.934G>A | NP_001341233.1:p.Gly312Ser |