Revel Score:
ENST00000262624
0.370
ENST00000361922
0.370
ENST00000392213 (MANE Select)
0.370
ENST00000537831
0.370
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00625061 (NFE)
Genomes Max Group AF
0.00651164 (NFE)
Exomes Max Group AF
0.00620729 (NFE)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35299590C>T , CM000681.2:g.35299590C>T | GRCh38 |
| NC_000019.9:g.35790493C>T , CM000681.1:g.35790493C>T | GRCh37 |
| NC_000019.8:g.40482333C>T | NCBI36 |
| NG_034078.1:g.12505C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392213.8:c.452C>T MANE Select | ENSP00000376048.2:p.Ala151Val | |
| ENST00000361922.8:c.452C>T | ENSP00000355234.4:p.Ala151Val | |
| ENST00000392213.7:c.452C>T | ENSP00000376048.2:p.Ala151Val | |
| ENST00000537831.2:c.377C>T | ENSP00000440695.1:p.Ala126Val | |
| ENST00000595791.5:c.452C>T | ENSP00000473125.1:p.Ala151Val | |
| ENST00000597035.5:c.*36C>T | ENSP00000473245.1:n.*36C>T | |
| ENST00000600291.5:c.377C>T | ENSP00000470772.1:p.Ala126Val | |
| NM_001199216.1:c.377C>T | NP_001186145.1:p.Ala126Val | |
| NM_002361.3:c.452C>T | NP_002352.1:p.Ala151Val | |
| NM_080600.2:c.452C>T | NP_542167.1:p.Ala151Val | |
| NM_002361.4:c.452C>T MANE Select | NP_002352.1:p.Ala151Val | |
| NM_001199216.2:c.377C>T | NP_001186145.1:p.Ala126Val | |
| NM_080600.3:c.452C>T | NP_542167.1:p.Ala151Val |