Revel Score:
ENST00000264027 (MANE Select)
0.838
ENST00000527762
0.838
ENST00000534230
0.838
ENST00000392789
0.838
gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.121303512A>G , CM000673.2:g.121303512A>G | GRCh38 |
| NC_000011.9:g.121174221A>G , CM000673.1:g.121174221A>G | GRCh37 |
| NC_000011.8:g.120679431A>G | NCBI36 |
| NG_009446.1:g.15834A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264027.9:c.137A>G MANE Select | ENSP00000264027.4:p.Tyr46Cys | |
| ENST00000264027.8:c.137A>G | ENSP00000264027.4:p.Tyr46Cys | |
| ENST00000392789.2:c.137A>G | ENSP00000376539.2:p.Tyr46Cys | |
| ENST00000524683.5:n.193A>G | ||
| ENST00000527762.5:c.137A>G | ENSP00000436290.1:p.Tyr46Cys | |
| ENST00000531140.1:n.205A>G | ||
| ENST00000534230.5:c.137A>G | ENSP00000432550.1:p.Tyr46Cys | |
| ENST00000534455.5:n.283A>G | ||
| NM_001024956.2:c.137A>G | NP_001020127.1:p.Tyr46Cys | |
| NM_006918.4:c.137A>G | NP_008849.2:p.Tyr46Cys | |
| NM_006918.5:c.137A>G MANE Select | NP_008849.2:p.Tyr46Cys | |
| NM_001024956.3:c.137A>G | NP_001020127.1:p.Tyr46Cys |