Revel Score:
ENST00000538673
0.330
ENST00000371084 (MANE Select)
0.330
ENST00000540265
0.330
ENST00000371083
0.330
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00051863 (EAS)
Genomes Max Group AF
0.00090473 (EAS)
Exomes Max Group AF
0.00039594 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.63638759C>T , CM000663.2:g.63638759C>T | GRCh38 |
| NC_000001.10:g.64104430C>T , CM000663.1:g.64104430C>T | GRCh37 |
| NC_000001.9:g.63877018C>T | NCBI36 |
| NG_016966.1:g.50484C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371084.8:c.1103C>T MANE Select | ENSP00000360125.3:p.Ala368Val | |
| ENST00000650546.1:c.1103C>T | ENSP00000497812.1:p.Ala368Val | |
| ENST00000371083.4:c.1157C>T | ENSP00000360124.4:p.Ala386Val | |
| ENST00000371084.7:c.1103C>T | ENSP00000360125.3:p.Ala368Val | |
| ENST00000540265.5:c.512C>T | ENSP00000443449.1:p.Ala171Val | |
| NM_001172818.1:c.1157C>T | NP_001166289.1:p.Ala386Val | |
| NM_001172819.1:c.512C>T | NP_001166290.1:p.Ala171Val | |
| NM_002633.2:c.1103C>T | NP_002624.2:p.Ala368Val | |
| NM_002633.3:c.1103C>T MANE Select | NP_002624.2:p.Ala368Val | |
| NM_001172819.2:c.512C>T | NP_001166290.1:p.Ala171Val |