Revel Score:
ENST00000345060 (MANE Select)
0.016
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00003901 (SAS)
Exomes Max Group AF
0.00003256 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.37965671C>T , CM000670.2:g.37965671C>T | GRCh38 |
| NC_000008.10:g.37823189C>T , CM000670.1:g.37823189C>T | GRCh37 |
| NC_000008.9:g.37942346C>T | NCBI36 |
| NG_011936.1:g.5996G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000345060.5:c.799G>A MANE Select | ENSP00000343782.3:p.Ala267Thr | |
| ENST00000520341.2:n.927G>A | ||
| ENST00000647937.1:c.283G>A | ENSP00000497740.1:p.Ala95Thr | |
| ENST00000345060.4:c.799G>A | ENSP00000343782.3:p.Ala267Thr | |
| ENST00000520341.1:n.74G>A | ||
| ENST00000614635.1:c.799G>A | ENSP00000480325.1:p.Ala267Thr | |
| NM_000025.2:c.799G>A | NP_000016.1:p.Ala267Thr | |
| NM_000025.3:c.799G>A MANE Select | NP_000016.1:p.Ala267Thr |