Revel Score:
ENST00000431078
0.516
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.124524333C>G , CM000664.2:g.124524333C>G | GRCh38 |
| NC_000002.11:g.125281910C>G , CM000664.1:g.125281910C>G | GRCh37 |
| NC_000002.10:g.124998380C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682447.1:c.1358C>G MANE Select | ENSP00000508115.1:p.Ser453Trp | |
| ENST00000431078.1:c.1355C>G | ENSP00000399013.1:p.Ser452Trp | |
| NM_130773.3:c.1355C>G | NP_570129.1:p.Ser452Trp | |
| XM_006712258.1:c.1358C>G | XP_006712321.1:p.Ser453Trp | |
| XM_017003316.1:c.1358C>G | XP_016858805.1:p.Ser453Trp | |
| NM_001367498.1:c.1358C>G MANE Select | NP_001354427.1:p.Ser453Trp | |
| NM_130773.4:c.1355C>G | NP_570129.1:p.Ser452Trp |