ClinVar RCV:
ClinVar Variation:
dbSNP:
Revel Score:
ENST00000371410 (MANE Select)
0.489
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.119930091C>T , CM000685.2:g.119930091C>T | GRCh38 |
| NC_000023.10:g.119064054C>T , CM000685.1:g.119064054C>T | GRCh37 |
| NC_000023.9:g.118948082C>T | NCBI36 |
| NG_021260.1:g.18682G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371410.5:c.998G>A MANE Select | ENSP00000360464.3:p.Arg333Gln | |
| ENST00000652253.1:c.994G>A | ||
| ENST00000371410.4:c.998G>A | ENSP00000360464.3:p.Arg333Gln | |
| ENST00000477789.5:n.1926G>A | ||
| NM_024528.3:c.998G>A | NP_078804.2:p.Arg333Gln | |
| XM_017029842.1:c.701G>A | XP_016885331.1:p.Arg234Gln | |
| NM_024528.4:c.998G>A MANE Select | NP_078804.2:p.Arg333Gln |