Revel Score:
ENST00000257189 (MANE Select)
0.075
gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31475994A>T , CM000680.2:g.31475994A>T | GRCh38 |
| NC_000018.9:g.29055957A>T , CM000680.1:g.29055957A>T | GRCh37 |
| NC_000018.8:g.27309955A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000257189.5:c.2734A>T MANE Select | ENSP00000257189.4:p.Thr912Ser | |
| ENST00000257189.4:c.2734A>T | ENSP00000257189.4:p.Thr912Ser | |
| NM_001944.2:c.2734A>T | NP_001935.2:p.Thr912Ser | |
| XM_011525850.1:c.2731A>T | XP_011524152.1:p.Thr911Ser | |
| XM_011525850.2:c.2731A>T | XP_011524152.1:p.Thr911Ser | |
| NM_001944.3:c.2734A>T MANE Select | NP_001935.2:p.Thr912Ser |