Revel Score:
ENST00000442457
0.637
ENST00000253122 (MANE Select)
0.774
ENST00000430077
0.774
ENST00000328897
0.774
ENST00000413787
0.375
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153693361C>G , CM000685.2:g.153693361C>G | GRCh38 |
| NC_000023.10:g.152958816C>G , CM000685.1:g.152958816C>G | GRCh37 |
| NC_000023.9:g.152612010C>G | NCBI36 |
| NG_012016.1:g.10065C>G | |
| NG_012016.2:g.10065C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253122.10:c.1011C>G MANE Select | ENSP00000253122.5:p.Cys337Trp | |
| ENST00000253122.9:c.1011C>G | ENSP00000253122.5:p.Cys337Trp | |
| ENST00000413787.1:c.157C>G | ENSP00000400463.1:p.Leu53Val | |
| ENST00000430077.6:c.666C>G | ENSP00000403041.2:p.Cys222Trp | |
| ENST00000442457.1:c.95C>G | ||
| ENST00000467402.1:n.146-131C>G | ||
| ENST00000485324.1:n.1044C>G | ||
| NM_001142805.1:c.1011C>G | NP_001136277.1:p.Cys337Trp | |
| NM_001142806.1:c.666C>G | NP_001136278.1:p.Cys222Trp | |
| NM_005629.3:c.1011C>G | NP_005620.1:p.Cys337Trp | |
| NM_005629.4:c.1011C>G MANE Select | NP_005620.1:p.Cys337Trp | |
| NM_001142805.2:c.1011C>G | NP_001136277.1:p.Cys337Trp |