Revel Score:
ENST00000281938 (MANE Select)
0.664
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00033123 (AMR)
Genomes Max Group AF
0.00016885 (SAS)
Exomes Max Group AF
0.00035093 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.119193770C>T , CM000674.2:g.119193770C>T | GRCh38 |
| NC_000012.11:g.119631575C>T , CM000674.1:g.119631575C>T | GRCh37 |
| NC_000012.10:g.118115958C>T | NCBI36 |
| NG_007953.2:g.19981C>T , LRG_249:g.19981C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281938.7:c.503C>T MANE Select | ENSP00000281938.3:p.Ala168Val | |
| ENST00000674542.1:c.*46C>T | ENSP00000502352.1:n.*46C>T | |
| ENST00000674715.1:n.676C>T | ||
| ENST00000674763.1:c.208C>T | ||
| ENST00000674852.1:c.64+6682C>T | ||
| ENST00000675110.1:c.249C>T | ||
| ENST00000675211.1:c.266C>T | ||
| ENST00000675573.1:c.64+6682C>T | ||
| ENST00000675900.1:n.80C>T | ||
| ENST00000676071.1:n.236C>T | ||
| ENST00000676244.1:n.209C>T | ||
| ENST00000281938.6:c.503C>T | ENSP00000281938.2:p.Ala168Val | |
| ENST00000541798.1:c.154+6682C>T | ||
| ENST00000542496.1:n.361C>T | ||
| NM_014365.2:c.503C>T , LRG_249t1:c.503C>T | NP_055180.1:p.Ala168Val | |
| NM_014365.3:c.503C>T MANE Select | NP_055180.1:p.Ala168Val |