ClinVar RCV:
ClinVar Variation:
dbSNP:
Revel Score:
ENST00000263734 (MANE Select)
0.970
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.46380275A>G , CM000664.2:g.46380275A>G | GRCh38 |
| NC_000002.11:g.46607414A>G , CM000664.1:g.46607414A>G | GRCh37 |
| NC_000002.10:g.46460918A>G | NCBI36 |
| NG_016000.1:g.87874A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263734.5:c.1603A>G MANE Select | ENSP00000263734.3:p.Met535Val | |
| ENST00000263734.4:c.1603A>G | ENSP00000263734.3:p.Met535Val | |
| ENST00000466465.5:n.576A>G | ||
| NM_001430.4:c.1603A>G | NP_001421.2:p.Met535Val | |
| XM_011532698.1:c.1642A>G | XP_011531000.1:p.Met548Val | |
| XM_011532698.2:c.1642A>G | XP_011531000.1:p.Met548Val | |
| NM_001430.5:c.1603A>G MANE Select | NP_001421.2:p.Met535Val |