Revel Score:
ENST00000379374 (MANE Select)
0.929
ENST00000537599
0.929
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.22047116G>C , CM000685.2:g.22047116G>C | GRCh38 |
| NC_000023.10:g.22065234G>C , CM000685.1:g.22065234G>C | GRCh37 |
| NC_000023.9:g.21975155G>C | NCBI36 |
| NG_007563.2:g.19314G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000475778.2:n.680G>C | ||
| ENST00000683214.1:n.544+13993G>C | ||
| ENST00000684143.1:c.254G>C | ENSP00000508264.1:p.Cys85Ser | |
| ENST00000379374.5:c.254G>C MANE Select | ENSP00000368682.4:p.Cys85Ser | |
| ENST00000379374.4:c.254G>C | ENSP00000368682.4:p.Cys85Ser | |
| NM_000444.5:c.254G>C | NP_000435.3:p.Cys85Ser | |
| NM_001282754.1:c.254G>C | NP_001269683.1:p.Cys85Ser | |
| XM_011545535.1:c.254G>C | XP_011543837.1:p.Cys85Ser | |
| XM_024452390.1:c.-38G>C | XP_024308158.1:n.-38G>C | |
| XR_001755695.1:n.933G>C | ||
| NM_000444.6:c.254G>C MANE Select | NP_000435.3:p.Cys85Ser | |
| NM_001282754.2:c.254G>C | NP_001269683.1:p.Cys85Ser |