Revel Score:
ENST00000306071 (MANE Select)
0.595
gnomAD v4:
Joint Max Group AF
0.00000689 (NFE)
Exomes Max Group AF
0.00000731 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7445128A>G , CM000679.2:g.7445128A>G | GRCh38 |
| NC_000017.10:g.7348447A>G , CM000679.1:g.7348447A>G | GRCh37 |
| NC_000017.9:g.7289171A>G | NCBI36 |
| NG_008026.1:g.5042A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306071.7:c.1A>G MANE Select | ENSP00000304290.2:p.Met1Val | |
| ENST00000306071.6:c.1A>G | ENSP00000304290.2:p.Met1Val | |
| ENST00000572857.5:c.1A>G | ENSP00000461402.1:p.Met1Val | |
| ENST00000574054.1:n.21A>G | ||
| NM_000747.2:c.1A>G | NP_000738.2:p.Met1Val | |
| NM_000747.3:c.1A>G MANE Select | NP_000738.2:p.Met1Val |