Revel Score:
ENST00000401061 (MANE Select)
0.749
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000365 (SAS)
Exomes Max Group AF
0.00000385 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.45500333A>G , CM000663.2:g.45500333A>G | GRCh38 |
| NC_000001.10:g.45966005A>G , CM000663.1:g.45966005A>G | GRCh37 |
| NC_000001.9:g.45738592A>G | NCBI36 |
| NG_013378.1:g.5150A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000401061.9:c.1A>G MANE Select | ENSP00000383840.4:p.Met1Val | |
| ENST00000401061.8:c.1A>G | ENSP00000383840.4:p.Met1Val | |
| NM_015506.2:c.1A>G | NP_056321.2:p.Met1Val | |
| XM_005270724.3:c.1A>G | XP_005270781.1:p.Met1Val | |
| XM_011541204.1:c.-222A>G | XP_011539506.1:n.-222A>G | |
| NM_001330540.1:c.-222A>G | NP_001317469.1:n.-222A>G | |
| XM_005270724.5:c.1A>G | XP_005270781.1:p.Met1Val | |
| NM_015506.3:c.1A>G MANE Select | NP_056321.2:p.Met1Val | |
| NM_001330540.2:c.-222A>G | NP_001317469.1:n.-222A>G |