Revel Score:
ENST00000382545 (MANE Select)
0.748
ENST00000228858
0.748
gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.4912102G>A , CM000674.2:g.4912102G>A | GRCh38 |
| NC_000012.11:g.5021268G>A , CM000674.1:g.5021268G>A | GRCh37 |
| NC_000012.10:g.4891529G>A | NCBI36 |
| NG_011815.1:g.7196G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382545.5:c.724G>A MANE Select | ENSP00000371985.3:p.Ala242Thr | |
| ENST00000543874.3:n.105+1630G>A | ||
| ENST00000639306.1:c.562G>A | ENSP00000492506.1:p.Ala188Thr | |
| ENST00000382545.3:c.724G>A | ENSP00000371985.3:p.Ala242Thr | |
| ENST00000541095.1:n.105+1630G>A | ||
| ENST00000543874.2:n.96+1630G>A | ||
| NM_000217.2:c.724G>A | NP_000208.2:p.Ala242Thr | |
| NM_000217.3:c.724G>A MANE Select | NP_000208.2:p.Ala242Thr |