ClinVar RCV:
ClinVar Variation:
dbSNP:
Revel Score:
ENST00000374866 (MANE Select)
0.929
ENST00000452536
0.929
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189041675C>A , CM000664.2:g.189041675C>A | GRCh38 |
| NC_000002.11:g.189906401C>A , CM000664.1:g.189906401C>A | GRCh37 |
| NC_000002.10:g.189614646C>A | NCBI36 |
| NG_011799.1:g.143205G>T | |
| NG_011799.2:g.143205G>T | |
| NG_011799.3:g.188627G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374866.9:c.3544G>T MANE Select | ENSP00000364000.3:p.Gly1182Cys | |
| ENST00000374866.7:c.3544G>T | ENSP00000364000.3:p.Gly1182Cys | |
| ENST00000618828.1:c.2383G>T | ENSP00000482184.1:p.Gly795Cys | |
| NM_000393.3:c.3544G>T | NP_000384.2:p.Gly1182Cys | |
| XM_011510573.1:c.3406G>T | XP_011508875.1:p.Gly1136Cys | |
| NM_000393.4:c.3544G>T | NP_000384.2:p.Gly1182Cys | |
| XM_011510573.3:c.3406G>T | XP_011508875.1:p.Gly1136Cys | |
| NM_000393.5:c.3544G>T MANE Select | NP_000384.2:p.Gly1182Cys |