Revel Score:
ENST00000541682 (MANE Select)
0.423
ENST00000317814
0.423
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00008069 (EAS)
Exomes Max Group AF
0.00007279 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8121693C>A , CM000679.2:g.8121693C>A | GRCh38 |
| NC_000017.10:g.8025011C>A , CM000679.1:g.8025011C>A | GRCh37 |
| NC_000017.9:g.7965736C>A | NCBI36 |
| NG_015807.1:g.2224G>T | |
| NG_015816.1:g.7400G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000541682.7:c.571G>T MANE Select | ENSP00000446205.2:p.Asp191Tyr | |
| ENST00000317814.8:c.556G>T | ENSP00000314774.4:p.Asp186Tyr | |
| ENST00000541682.6:c.571G>T | ENSP00000446205.2:p.Asp191Tyr | |
| NM_001165967.1:c.571G>T | NP_001159439.1:p.Asp191Tyr | |
| NM_032580.3:c.556G>T | NP_115969.2:p.Asp186Tyr | |
| XM_011524038.1:c.676G>T | XP_011522340.1:p.Asp226Tyr | |
| XM_011524039.1:c.667G>T | XP_011522341.1:p.Asp223Tyr | |
| XM_011524040.1:c.667G>T | XP_011522342.1:p.Asp223Tyr | |
| XM_011524041.1:c.658G>T | XP_011522343.1:p.Asp220Tyr | |
| XM_011524042.1:c.529G>T | XP_011522344.1:p.Asp177Tyr | |
| XR_934203.1:n.69+1879C>A | ||
| XM_017025232.1:c.676G>T | XP_016880721.1:p.Asp226Tyr | |
| XM_024451007.1:c.676G>T | XP_024306775.1:p.Asp226Tyr | |
| NM_001165967.2:c.571G>T MANE Select | NP_001159439.1:p.Asp191Tyr | |
| NM_032580.4:c.556G>T | NP_115969.2:p.Asp186Tyr |