Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.118168674A>T , CM000673.2:g.118168674A>T | GRCh38 |
| NC_000011.9:g.118039389A>T , CM000673.1:g.118039389A>T | GRCh37 |
| NC_000011.8:g.117544599A>T | NCBI36 |
| NG_042217.1:g.12949T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000278947.6:c.148T>A MANE Select | ENSP00000278947.5:p.Cys50Ser | |
| ENST00000658882.1:c.252T>A | ENSP00000499572.1:p.Pro84= | |
| ENST00000665446.1:n.384T>A | ||
| ENST00000669850.1:n.390T>A | ||
| ENST00000278947.5:c.148T>A | ENSP00000278947.5:p.Cys50Ser | |
| NM_004588.4:c.148T>A | NP_004579.1:p.Cys50Ser | |
| NM_004588.5:c.148T>A MANE Select | NP_004579.1:p.Cys50Ser |