ClinVar Variation:
dbSNP:
Revel Score:
ENST00000262186 (MANE Select)
0.888
ENST00000430723
0.888
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150974764G>A , CM000669.2:g.150974764G>A | GRCh38 |
| NC_000007.13:g.150671852G>A , CM000669.1:g.150671852G>A | GRCh37 |
| NC_000007.12:g.150302785G>A | NCBI36 |
| NG_008916.1:g.8163C>T , LRG_288:g.8163C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262186.10:c.254C>T MANE Select | ENSP00000262186.5:p.Ala85Val | |
| ENST00000262186.9:c.254C>T | ENSP00000262186.5:p.Ala85Val | |
| ENST00000430723.4:c.77C>T | ENSP00000387657.4:p.Ala26Val | |
| ENST00000532957.5:n.477C>T | ||
| NM_000238.3:c.254C>T , LRG_288t1:c.254C>T | NP_000229.1:p.Ala85Val | |
| NM_172056.2:c.254C>T , LRG_288t2:c.254C>T | NP_742053.1:p.Ala85Val | |
| XM_011516186.1:c.254C>T | XP_011514488.1:p.Ala85Val | |
| XM_011516186.3:c.254C>T | XP_011514488.1:p.Ala85Val | |
| XM_017012196.1:c.77C>T | XP_016867685.1:p.Ala26Val | |
| NM_000238.4:c.254C>T MANE Select | NP_000229.1:p.Ala85Val |