ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v4:
Revel Score:
ENST00000280362 (MANE Select)
0.915
ENST00000525803
0.915
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.112226517G>A , CM000673.2:g.112226517G>A | GRCh38 |
| NC_000011.9:g.112097240G>A , CM000673.1:g.112097240G>A | GRCh37 |
| NC_000011.8:g.111602450G>A | NCBI36 |
| NG_008743.1:g.5153G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000280362.8:c.74G>A MANE Select | ENSP00000280362.3:p.Arg25Gln | |
| ENST00000280362.7:c.74G>A | ENSP00000280362.3:p.Arg25Gln | |
| ENST00000525645.1:n.149G>A | ||
| ENST00000525803.1:c.74G>A | ENSP00000431750.1:p.Arg25Gln | |
| ENST00000528679.5:c.74G>A | ENSP00000435895.1:p.Arg25Gln | |
| ENST00000531673.5:c.74G>A | ENSP00000433469.1:p.Arg25Gln | |
| NM_000317.2:c.74G>A | NP_000308.1:p.Arg25Gln | |
| NM_000317.3:c.74G>A MANE Select | NP_000308.1:p.Arg25Gln |