Revel Score:
ENST00000262418 (MANE Select)
0.816
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000542 (NFE)
Exomes Max Group AF
0.00000531 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44254617G>A , CM000679.2:g.44254617G>A | GRCh38 |
| NC_000017.10:g.42331985G>A , CM000679.1:g.42331985G>A | GRCh37 |
| NC_000017.9:g.39687511G>A | NCBI36 |
| NG_007498.1:g.18518C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262418.12:c.1936C>T MANE Select | ENSP00000262418.6:p.Arg646Trp | |
| ENST00000262418.10:c.1936C>T | ENSP00000262418.6:p.Arg646Trp | |
| ENST00000399246.3:c.838C>T | ENSP00000382190.3:p.Arg280Trp | |
| NM_000342.3:c.1936C>T | NP_000333.1:p.Arg646Trp | |
| XM_005257593.3:c.1741C>T | XP_005257650.1:p.Arg581Trp | |
| XM_011525129.1:c.1846C>T | XP_011523431.1:p.Arg616Trp | |
| XM_011525130.1:c.1936C>T | XP_011523432.1:p.Arg646Trp | |
| XM_011525131.1:c.1936C>T | XP_011523433.1:p.Arg646Trp | |
| XM_005257593.5:c.1741C>T | XP_005257650.1:p.Arg581Trp | |
| XM_011525129.2:c.1846C>T | XP_011523431.1:p.Arg616Trp | |
| NM_000342.4:c.1936C>T MANE Select | NP_000333.1:p.Arg646Trp |