Revel Score:
ENST00000367588 (MANE Select)
0.191
gnomAD v2:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.180917004C>A , CM000663.2:g.180917004C>A | GRCh38 |
| NC_000001.10:g.180886140C>A , CM000663.1:g.180886140C>A | GRCh37 |
| NC_000001.9:g.179152763C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367588.9:c.901C>A MANE Select | ENSP00000356560.4:p.Arg301Ser | |
| ENST00000367588.8:c.901C>A | ENSP00000356560.4:p.Arg301Ser | |
| NM_020950.1:c.901C>A | NP_066001.1:p.Arg301Ser | |
| NM_020950.2:c.901C>A MANE Select | NP_066001.1:p.Arg301Ser |