Revel Score:
ENST00000377327
0.053
ENST00000377340
0.053
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.20052443G>C , CM000682.2:g.20052443G>C | GRCh38 |
| NC_000020.10:g.20033087G>C , CM000682.1:g.20033087G>C | GRCh37 |
| NC_000020.9:g.19981087G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000536226.2:c.-101C>G MANE Select | ENSP00000440733.1:n.-101C>G | |
| ENST00000377327.8:c.347C>G | ENSP00000366544.4:p.Ser116Cys | |
| ENST00000377340.6:c.383C>G | ENSP00000366557.2:p.Ser128Cys | |
| ENST00000490910.5:c.311+36C>G | ENSP00000429226.1:n.311+36C>G | |
| ENST00000496549.5:c.221+32C>G | ENSP00000428436.1:n.221+32C>G | |
| ENST00000536226.1:c.-101C>G | ENSP00000440733.1:n.-101C>G | |
| NM_001278625.1:c.347C>G | NP_001265554.1:p.Ser116Cys | |
| NM_001278626.1:c.-319+36C>G | NP_001265555.1:n.-319+36C>G | |
| NM_001278627.1:c.-319+32C>G | NP_001265556.1:n.-319+32C>G | |
| NM_001278628.1:c.-101C>G | NP_001265557.1:n.-101C>G | |
| NM_016652.5:c.383C>G | NP_057736.4:p.Ser128Cys | |
| NM_001278625.2:c.347C>G | NP_001265554.1:p.Ser116Cys | |
| NM_001278626.2:c.-319+36C>G | NP_001265555.1:n.-319+36C>G | |
| NM_001278627.2:c.-319+32C>G | NP_001265556.1:n.-319+32C>G | |
| NM_001278628.2:c.-101C>G MANE Select | NP_001265557.1:n.-101C>G | |
| NM_016652.6:c.383C>G | NP_057736.4:p.Ser128Cys |