Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.12256463G>C , CM000663.2:g.12256463G>C | GRCh38 |
| NC_000001.10:g.12316520G>C , CM000663.1:g.12316520G>C | GRCh37 |
| NC_000001.9:g.12239107G>C | NCBI36 |
| NG_056877.1:g.31425G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000620676.6:c.800G>C MANE Select | ENSP00000478104.1:p.Cys267Ser | |
| ENST00000489961.1:n.281G>C | ||
| ENST00000613099.4:c.800G>C | ENSP00000482233.1:p.Cys267Ser | |
| ENST00000620676.4:c.800G>C | ENSP00000478104.1:p.Cys267Ser | |
| NM_015378.3:c.800G>C | NP_056193.2:p.Cys267Ser | |
| NM_018156.3:c.800G>C | NP_060626.2:p.Cys267Ser | |
| NM_015378.4:c.800G>C MANE Select | NP_056193.2:p.Cys267Ser | |
| NM_018156.4:c.800G>C | NP_060626.2:p.Cys267Ser |