ClinVar Variation:
dbSNP:
Revel Score:
ENST00000280362 (MANE Select)
0.939
ENST00000524931
0.939
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.112233200A>G , CM000673.2:g.112233200A>G | GRCh38 |
| NC_000011.9:g.112103923A>G , CM000673.1:g.112103923A>G | GRCh37 |
| NC_000011.8:g.111609133A>G | NCBI36 |
| NG_008743.1:g.11836A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000280362.8:c.281A>G MANE Select | ENSP00000280362.3:p.Asp94Gly | |
| ENST00000280362.7:c.281A>G | ENSP00000280362.3:p.Asp94Gly | |
| ENST00000524931.1:c.77A>G | ENSP00000434688.1:p.Asp26Gly | |
| ENST00000525803.1:c.*15A>G | ENSP00000431750.1:n.*15A>G | |
| ENST00000527428.5:n.455A>G | ||
| ENST00000527635.1:n.322A>G | ||
| ENST00000528679.5:c.*90A>G | ENSP00000435895.1:n.*90A>G | |
| ENST00000531175.1:n.232A>G | ||
| ENST00000531673.5:c.*90A>G | ENSP00000433469.1:n.*90A>G | |
| NM_000317.2:c.281A>G | NP_000308.1:p.Asp94Gly | |
| XM_011542943.1:c.242A>G | XP_011541245.1:p.Asp81Gly | |
| NM_000317.3:c.281A>G MANE Select | NP_000308.1:p.Asp94Gly |