Revel Score:
ENST00000338625 (MANE Select)
0.865
ENST00000379523
0.865
ENST00000443985
0.865
ENST00000417731
0.865
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000124 (NFE)
Exomes Max Group AF
0.00000132 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.40793270C>T , CM000675.2:g.40793270C>T | GRCh38 |
| NC_000013.10:g.41367406C>T , CM000675.1:g.41367406C>T | GRCh37 |
| NC_000013.9:g.40265406C>T | NCBI36 |
| NG_012248.1:g.8860C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000707033.1:c.44C>T | ENSP00000516711.1:p.Ala15Val | |
| ENST00000338625.9:c.44C>T MANE Select | ENSP00000342267.4:p.Ala15Val | |
| ENST00000338625.8:c.44C>T | ENSP00000342267.4:p.Ala15Val | |
| ENST00000417731.5:c.44C>T | ENSP00000415826.1:p.Ala15Val | |
| ENST00000470509.1:c.44C>T | ENSP00000431429.1:p.Ala15Val | |
| ENST00000478827.1:n.365C>T | ||
| NM_014252.3:c.44C>T | NP_055067.1:p.Ala15Val | |
| NM_014252.4:c.44C>T MANE Select | NP_055067.1:p.Ala15Val |