Revel Score:
ENST00000225573
0.639
ENST00000434554
0.639
ENST00000544840
0.639
ENST00000534893
0.639
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00013368 (MID)
Exomes Max Group AF
0.00014146 (MID)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.47946763A>G , CM000679.2:g.47946763A>G | GRCh38 |
| NC_000017.10:g.46024129A>G , CM000679.1:g.46024129A>G | GRCh37 |
| NC_000017.9:g.43379128A>G | NCBI36 |
| NG_008744.1:g.10241A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225573.5:c.638A>G | ENSP00000225573.5:p.Tyr213Cys | |
| ENST00000434554.7:c.713A>G | ENSP00000399960.3:p.Tyr238Cys | |
| ENST00000582171.6:c.*432A>G | ENSP00000463994.1:n.*432A>G | |
| ENST00000584061.6:c.698A>G | ENSP00000463972.2:p.Tyr233Cys | |
| ENST00000584806.2:n.436A>G | ||
| ENST00000641305.1:n.2266A>G | ||
| ENST00000641323.1:c.*786A>G | ENSP00000492965.1:n.*786A>G | |
| ENST00000641427.1:n.767A>G | ||
| ENST00000641703.1:c.483A>G | ENSP00000493219.1:n.483A>G | |
| ENST00000641709.1:c.*589A>G | ENSP00000493349.1:n.*589A>G | |
| ENST00000641856.1:c.*1275A>G | ENSP00000493224.1:n.*1275A>G | |
| ENST00000642017.2:c.767A>G MANE Select | ENSP00000493302.2:p.Tyr256Cys | |
| ENST00000225573.4:c.767A>G | ENSP00000225573.4:p.Tyr256Cys | |
| ENST00000434554.6:c.638A>G | ENSP00000399960.2:p.Tyr213Cys | |
| ENST00000582171.5:c.*432A>G | ENSP00000463994.1:n.*432A>G | |
| ENST00000584806.1:n.436A>G | ||
| NM_018129.3:c.767A>G | NP_060599.1:p.Tyr256Cys | |
| XM_005257500.2:c.527A>G | XP_005257557.1:p.Tyr176Cys | |
| XM_011524968.1:c.482A>G | XP_011523270.1:p.Tyr161Cys | |
| XM_005257500.3:c.527A>G | XP_005257557.1:p.Tyr176Cys | |
| XM_011524968.2:c.482A>G | XP_011523270.1:p.Tyr161Cys | |
| XM_017024813.1:c.527A>G | XP_016880302.1:p.Tyr176Cys | |
| NM_018129.4:c.767A>G MANE Select | NP_060599.1:p.Tyr256Cys |