Revel Score:
ENST00000520113 (MANE Select)
0.924
ENST00000369538
0.924
ENST00000353928
0.924
gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.114677924C>T , CM000663.2:g.114677924C>T | GRCh38 |
| NC_000001.10:g.115220545C>T , CM000663.1:g.115220545C>T | GRCh37 |
| NC_000001.9:g.115022068C>T | NCBI36 |
| NG_008012.1:g.22632G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369538.4:c.1198G>A | ENSP00000358551.4:p.Ala400Thr | |
| ENST00000520113.7:c.1210G>A MANE Select | ENSP00000430075.3:p.Ala404Thr | |
| ENST00000637080.1:c.993G>A | ENSP00000489753.1:n.993G>A | |
| ENST00000639077.1:n.875G>A | ||
| ENST00000369538.3:c.1297G>A | ENSP00000358551.3:p.Ala433Thr | |
| ENST00000520113.6:c.1309G>A | ENSP00000430075.2:p.Ala437Thr | |
| NM_000036.2:c.1309G>A | NP_000027.2:p.Ala437Thr | |
| NM_001172626.1:c.1297G>A | NP_001166097.1:p.Ala433Thr | |
| NM_000036.3:c.1210G>A MANE Select | NP_000027.3:p.Ala404Thr | |
| NM_001172626.2:c.1198G>A | NP_001166097.2:p.Ala400Thr |