Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.27095555T>A , CM000669.2:g.27095555T>A | GRCh38 |
| NC_000007.13:g.27135174T>A , CM000669.1:g.27135174T>A | GRCh37 |
| NC_000007.12:g.27101699T>A | NCBI36 |
| NG_011813.1:g.5452A>T | |
| NG_033087.1:g.4462T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000643460.2:c.358A>T MANE Select | ENSP00000494260.2:p.Ser120Cys | |
| ENST00000343060.4:c.358A>T | ENSP00000343246.4:p.Ser120Cys | |
| ENST00000355633.5:c.354+4A>T | ENSP00000347851.5:n.354+4A>T | |
| NM_005522.4:c.358A>T | NP_005513.1:p.Ser120Cys | |
| NM_153620.2:c.354+4A>T | NP_705873.2:n.354+4A>T | |
| NM_005522.5:c.358A>T MANE Select | NP_005513.2:p.Ser120Cys | |
| NM_153620.3:c.354+4A>T | NP_705873.3:n.354+4A>T |