Revel Score:
ENST00000399402
0.963
ENST00000307363 (MANE Select)
0.963
ENST00000445488
0.963
ENST00000307377
0.963
ENST00000415454
0.963
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001746 (AFR)
Exomes Max Group AF
0.00002374 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.33051988T>C , CM000665.2:g.33051988T>C | GRCh38 |
| NC_000003.11:g.33093480T>C , CM000665.1:g.33093480T>C | GRCh37 |
| NC_000003.10:g.33068484T>C | NCBI36 |
| NG_009005.1:g.50215A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307363.10:c.809A>G MANE Select | ENSP00000306920.4:p.Tyr270Cys | |
| ENST00000307363.9:c.809A>G | ENSP00000306920.4:p.Tyr270Cys | |
| ENST00000307377.12:c.416A>G | ENSP00000305920.8:p.Tyr139Cys | |
| ENST00000399402.7:c.719A>G | ENSP00000382333.2:p.Tyr240Cys | |
| ENST00000415454.1:c.332A>G | ENSP00000411813.1:p.Tyr111Cys | |
| ENST00000438227.1:c.*301A>G | ENSP00000401250.1:n.*301A>G | |
| ENST00000446732.5:c.*252A>G | ENSP00000407365.1:n.*252A>G | |
| ENST00000482097.5:n.184A>G | ||
| ENST00000485698.5:n.212A>G | ||
| ENST00000498537.5:n.335A>G | ||
| NM_000404.2:c.809A>G | NP_000395.2:p.Tyr270Cys | |
| NM_000404.3:c.809A>G | NP_000395.2:p.Tyr270Cys | |
| NM_001079811.1:c.719A>G | NP_001073279.1:p.Tyr240Cys | |
| NM_001079811.2:c.719A>G | NP_001073279.1:p.Tyr240Cys | |
| NM_001135602.1:c.416A>G | NP_001129074.1:p.Tyr139Cys | |
| NM_001135602.2:c.416A>G | NP_001129074.1:p.Tyr139Cys | |
| NM_001317040.1:c.953A>G | NP_001303969.1:p.Tyr318Cys | |
| NM_000404.4:c.809A>G MANE Select | NP_000395.3:p.Tyr270Cys | |
| NM_001079811.3:c.719A>G | NP_001073279.2:p.Tyr240Cys | |
| NM_001135602.3:c.416A>G | NP_001129074.2:p.Tyr139Cys | |
| NM_001317040.2:c.953A>G | NP_001303969.2:p.Tyr318Cys | |
| NM_001393580.1:c.809A>G | NP_001380509.1:p.Tyr270Cys |