Revel Score:
ENST00000553106 (MANE Select)
0.965
ENST00000307000
0.965
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102852942C>A , CM000674.2:g.102852942C>A | GRCh38 |
| NC_000012.11:g.103246720C>A , CM000674.1:g.103246720C>A | GRCh37 |
| NC_000012.10:g.101770850C>A | NCBI36 |
| NG_008690.1:g.69661G>T | |
| NG_008690.2:g.110469G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.715G>T MANE Select | ENSP00000448059.1:p.Gly239Cys | |
| ENST00000307000.7:c.700G>T | ENSP00000303500.2:p.Gly234Cys | |
| ENST00000549247.6:n.474G>T | ||
| ENST00000553106.5:c.715G>T | ENSP00000448059.1:p.Gly239Cys | |
| NM_000277.1:c.715G>T | NP_000268.1:p.Gly239Cys | |
| XM_011538422.1:c.715G>T | XP_011536724.1:p.Gly239Cys | |
| NM_000277.2:c.715G>T | NP_000268.1:p.Gly239Cys | |
| NM_001354304.1:c.715G>T | NP_001341233.1:p.Gly239Cys | |
| NM_000277.3:c.715G>T MANE Select | NP_000268.1:p.Gly239Cys | |
| NM_001354304.2:c.715G>T | NP_001341233.1:p.Gly239Cys |