Revel Score:
ENST00000392386 (MANE Select)
0.653
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18596895C>G , CM000681.2:g.18596895C>G | GRCh38 |
| NC_000019.9:g.18707705C>G , CM000681.1:g.18707705C>G | GRCh37 |
| NC_000019.8:g.18568705C>G | NCBI36 |
| NG_013370.1:g.14956G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684169.1:c.852G>C | ENSP00000506849.1:p.Trp284Cys | |
| ENST00000392386.8:c.852G>C MANE Select | ENSP00000376188.2:p.Trp284Cys | |
| ENST00000392386.7:c.852G>C | ENSP00000376188.2:p.Trp284Cys | |
| ENST00000597131.1:c.317G>C | ||
| NM_004750.4:c.852G>C | NP_004741.1:p.Trp284Cys | |
| XM_011528422.1:c.786G>C | XP_011526724.1:p.Trp262Cys | |
| XM_011528423.1:c.852G>C | XP_011526725.1:p.Trp284Cys | |
| XM_011528424.1:c.786G>C | XP_011526726.1:p.Trp262Cys | |
| XM_011528422.2:c.786G>C | XP_011526724.1:p.Trp262Cys | |
| XM_011528423.2:c.852G>C | XP_011526725.1:p.Trp284Cys | |
| XM_011528424.3:c.786G>C | XP_011526726.1:p.Trp262Cys | |
| NM_004750.5:c.852G>C MANE Select | NP_004741.1:p.Trp284Cys |