ClinVar RCV:
ClinVar Variation:
dbSNP:
Revel Score:
ENST00000263734 (MANE Select)
0.547
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.46380281G>T , CM000664.2:g.46380281G>T | GRCh38 |
| NC_000002.11:g.46607420G>T , CM000664.1:g.46607420G>T | GRCh37 |
| NC_000002.10:g.46460924G>T | NCBI36 |
| NG_016000.1:g.87880G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263734.5:c.1609G>T MANE Select | ENSP00000263734.3:p.Gly537Trp | |
| ENST00000263734.4:c.1609G>T | ENSP00000263734.3:p.Gly537Trp | |
| ENST00000466465.5:n.582G>T | ||
| NM_001430.4:c.1609G>T | NP_001421.2:p.Gly537Trp | |
| XM_011532698.1:c.1648G>T | XP_011531000.1:p.Gly550Trp | |
| XM_011532698.2:c.1648G>T | XP_011531000.1:p.Gly550Trp | |
| NM_001430.5:c.1609G>T MANE Select | NP_001421.2:p.Gly537Trp |