Revel Score:
ENST00000268124 (MANE Select)
0.276
ENST00000442287
0.276
ENST00000526314
0.276
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00020676 (AMR)
Genomes Max Group AF
0.00001919 (AFR)
Exomes Max Group AF
0.0002775 (AMR)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89324150G>A , CM000677.2:g.89324150G>A | GRCh38 |
| NC_000015.9:g.89867381G>A , CM000677.1:g.89867381G>A | GRCh37 |
| NC_000015.8:g.87668385G>A | NCBI36 |
| NG_008218.1:g.15646C>T | |
| NG_008218.2:g.15646C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636937.2:c.2027C>T | ENSP00000516154.1:p.Ala676Val | |
| ENST00000268124.11:c.2027C>T MANE Select | ENSP00000268124.5:p.Ala676Val | |
| ENST00000530292.3:c.1628C>T | ENSP00000432885.2:p.Ala543Val | |
| ENST00000635986.2:c.2027C>T | ENSP00000490653.2:p.Ala676Val | |
| ENST00000636774.1:c.*594C>T | ENSP00000489799.1:n.*594C>T | |
| ENST00000637238.1:c.724C>T | ENSP00000490756.1:n.724C>T | |
| ENST00000637264.1:c.1099C>T | ||
| ENST00000666746.1:c.1604C>T | ||
| ENST00000670281.1:c.347C>T | ENSP00000499709.1:p.Ala116Val | |
| ENST00000672071.1:n.2225C>T | ||
| ENST00000672923.2:n.2130C>T | ||
| ENST00000268124.9:c.2027C>T | ENSP00000268124.5:p.Ala676Val | |
| ENST00000442287.6:c.2027C>T | ENSP00000399851.2:p.Ala676Val | |
| ENST00000526314.2:c.409C>T | ||
| ENST00000526398.1:c.176C>T | ||
| ENST00000526573.1:n.113C>T | ||
| ENST00000532584.5:n.229C>T | ||
| ENST00000533857.1:n.142C>T | ||
| ENST00000631044.2:c.*1410C>T | ENSP00000486730.1:n.*1410C>T | |
| NM_001126131.1:c.2027C>T | NP_001119603.1:p.Ala676Val | |
| NM_002693.2:c.2027C>T | NP_002684.1:p.Ala676Val | |
| NM_001126131.2:c.2027C>T | NP_001119603.1:p.Ala676Val | |
| NM_002693.3:c.2027C>T MANE Select | NP_002684.1:p.Ala676Val |