Revel Score:
ENST00000262186 (MANE Select)
0.514
ENST00000430723
0.514
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000124 (NFE)
Exomes Max Group AF
0.00000132 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150974752G>A , CM000669.2:g.150974752G>A | GRCh38 |
| NC_000007.13:g.150671840G>A , CM000669.1:g.150671840G>A | GRCh37 |
| NC_000007.12:g.150302773G>A | NCBI36 |
| NG_008916.1:g.8175C>T , LRG_288:g.8175C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262186.10:c.266C>T MANE Select | ENSP00000262186.5:p.Ala89Val | |
| ENST00000262186.9:c.266C>T | ENSP00000262186.5:p.Ala89Val | |
| ENST00000430723.4:c.89C>T | ENSP00000387657.4:p.Ala30Val | |
| ENST00000532957.5:n.489C>T | ||
| NM_000238.3:c.266C>T , LRG_288t1:c.266C>T | NP_000229.1:p.Ala89Val | |
| NM_172056.2:c.266C>T , LRG_288t2:c.266C>T | NP_742053.1:p.Ala89Val | |
| XM_011516186.1:c.266C>T | XP_011514488.1:p.Ala89Val | |
| XM_011516186.3:c.266C>T | XP_011514488.1:p.Ala89Val | |
| XM_017012196.1:c.89C>T | XP_016867685.1:p.Ala30Val | |
| NM_000238.4:c.266C>T MANE Select | NP_000229.1:p.Ala89Val |