Revel Score:
ENST00000400518
0.716
ENST00000538798
0.716
ENST00000400521 (MANE Select)
0.716
ENST00000400525
0.716
ENST00000540474
0.716
ENST00000400519
0.716
ENST00000535882
0.716
ENST00000542719
0.716
gnomAD v2:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.19880629T>C , CM000684.2:g.19880629T>C | GRCh38 |
| NC_000022.10:g.19868152T>C , CM000684.1:g.19868152T>C | GRCh37 |
| NC_000022.9:g.18248152T>C | NCBI36 |
| NG_011835.1:g.66208A>G , LRG_417:g.66208A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400521.7:c.1175A>G MANE Select | ENSP00000383365.1:p.Tyr392Cys | |
| ENST00000400518.5:c.1085A>G | ENSP00000383362.1:p.Tyr362Cys | |
| ENST00000400519.6:c.1172A>G | ENSP00000383363.1:p.Tyr391Cys | |
| ENST00000400521.6:c.1175A>G | ENSP00000383365.1:p.Tyr392Cys | |
| ENST00000400525.6:c.1106A>G | ENSP00000383369.3:p.Tyr369Cys | |
| ENST00000462330.5:c.98A>G | ENSP00000485603.2:p.Tyr33Cys | |
| ENST00000462843.2:c.125A>G | ENSP00000485466.2:p.Tyr42Cys | |
| ENST00000474308.5:c.1118A>G | ENSP00000485665.1:p.Tyr373Cys | |
| ENST00000485358.5:c.143A>G | ENSP00000485499.2:p.Tyr48Cys | |
| ENST00000487165.5:n.1269A>G | ||
| ENST00000494454.5:n.1249A>G | ||
| ENST00000495655.2:n.719A>G | ||
| ENST00000542719.6:c.887A>G | ENSP00000485128.2:p.Tyr296Cys | |
| ENST00000634471.1:n.244-358A>G | ||
| ENST00000634537.1:c.404A>G | ENSP00000489208.1:p.Tyr135Cys | |
| NM_006440.4:c.1175A>G | NP_006431.2:p.Tyr392Cys | |
| NM_001352300.1:c.1172A>G | NP_001339229.1:p.Tyr391Cys | |
| NM_001352301.1:c.1085A>G | NP_001339230.1:p.Tyr362Cys | |
| NM_001352302.1:c.887A>G | NP_001339231.1:p.Tyr296Cys | |
| NR_147957.1:n.1307A>G | ||
| NM_006440.5:c.1175A>G MANE Select | NP_006431.2:p.Tyr392Cys | |
| NM_001352300.2:c.1172A>G | NP_001339229.1:p.Tyr391Cys | |
| NR_147957.2:n.1133A>G | ||
| NM_001352301.2:c.1085A>G | NP_001339230.1:p.Tyr362Cys | |
| NM_001352302.2:c.887A>G | NP_001339231.1:p.Tyr296Cys |