Revel Score:
ENST00000343932 (MANE Select)
0.944
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00007255 (EAS)
Exomes Max Group AF
0.0000651 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74752211G>A , CM000677.2:g.74752211G>A | GRCh38 |
| NC_000015.9:g.75044552G>A , CM000677.1:g.75044552G>A | GRCh37 |
| NC_000015.8:g.72831605G>A | NCBI36 |
| NG_008431.1:g.34670G>A | |
| NG_008431.2:g.34670G>A | |
| NG_061543.1:g.8367G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343932.5:c.1130G>A MANE Select | ENSP00000342007.4:p.Arg377Gln | |
| ENST00000343932.4:c.1130G>A | ENSP00000342007.4:p.Arg377Gln | |
| NM_000761.4:c.1130G>A | NP_000752.2:p.Arg377Gln | |
| NM_000761.5:c.1130G>A MANE Select | NP_000752.2:p.Arg377Gln |