Revel Score:
ENST00000225737 (MANE Select)
0.120
ENST00000395536
0.120
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.58430407 (AFR)
Genomes Max Group AF
0.57766213 (AFR)
Exomes Max Group AF
0.58830782 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.19909228T>C , CM000679.2:g.19909228T>C | GRCh38 |
| NC_000017.10:g.19812541T>C , CM000679.1:g.19812541T>C | GRCh37 |
| NC_000017.9:g.19753133T>C | NCBI36 |
| NG_011493.1:g.73589A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225737.11:c.1936A>G MANE Select | ENSP00000225737.6:p.Ile646Val | |
| ENST00000225737.10:c.1936A>G | ENSP00000225737.6:p.Ile646Val | |
| ENST00000395536.7:c.1762A>G | ENSP00000378907.3:p.Ile588Val | |
| ENST00000578898.1:c.363A>G | ||
| NM_007202.3:c.1936A>G | NP_009133.2:p.Ile646Val | |
| XM_006721431.2:c.1835-2996A>G | XP_006721494.1:n.1835-2996A>G | |
| XM_006721432.2:c.1762A>G | XP_006721495.1:p.Ile588Val | |
| XR_933969.1:n.1984A>G | ||
| XR_933970.1:n.1883-2996A>G | ||
| NM_001330152.1:c.1762A>G | NP_001317081.1:p.Ile588Val | |
| XR_001752418.2:n.2048A>G | ||
| XR_933969.3:n.1967A>G | ||
| NM_007202.4:c.1936A>G MANE Select | NP_009133.2:p.Ile646Val | |
| NM_001330152.2:c.1762A>G | NP_001317081.1:p.Ile588Val |