Revel Score:
ENST00000369026 (MANE Select)
0.089
ENST00000307940
0.089
ENST00000439749
0.089
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.01518177 (NFE)
Genomes Max Group AF
0.01351431 (NFE)
Exomes Max Group AF
0.01524323 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.150578851G>A , CM000663.2:g.150578851G>A | GRCh38 |
| NC_000001.10:g.150551327G>A , CM000663.1:g.150551327G>A | GRCh37 |
| NC_000001.9:g.148817951G>A | NCBI36 |
| NG_029146.1:g.5888C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369026.3:c.680C>T MANE Select | ENSP00000358022.2:p.Ala227Val | |
| ENST00000464132.2:n.627C>T | ||
| ENST00000676522.1:n.744C>T | ||
| ENST00000678610.1:c.86C>T | ENSP00000503149.1:p.Ala29Val | |
| ENST00000678770.1:c.680C>T | ENSP00000502859.1:p.Ala227Val | |
| ENST00000307940.3:c.680C>T | ENSP00000309973.3:p.Ala227Val | |
| ENST00000369026.2:c.680C>T | ENSP00000358022.2:p.Ala227Val | |
| ENST00000620947.4:c.221C>T | ENSP00000477624.1:p.Ala74Val | |
| NM_001197320.1:c.221C>T | NP_001184249.1:p.Ala74Val | |
| NM_021960.4:c.680C>T | NP_068779.1:p.Ala227Val | |
| NM_182763.2:c.680C>T | NP_877495.1:p.Ala227Val | |
| NM_021960.5:c.680C>T MANE Select | NP_068779.1:p.Ala227Val | |
| NM_001197320.2:c.221C>T | NP_001184249.1:p.Ala74Val | |
| NM_182763.3:c.680C>T | NP_877495.1:p.Ala227Val |