Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.118168643T>C , CM000673.2:g.118168643T>C | GRCh38 |
| NC_000011.9:g.118039358T>C , CM000673.1:g.118039358T>C | GRCh37 |
| NC_000011.8:g.117544568T>C | NCBI36 |
| NG_042217.1:g.12980A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000278947.6:c.179A>G MANE Select | ENSP00000278947.5:p.His60Arg | |
| ENST00000658882.1:c.*4A>G | ENSP00000499572.1:n.*4A>G | |
| ENST00000665446.1:n.415A>G | ||
| ENST00000669850.1:n.421A>G | ||
| ENST00000278947.5:c.179A>G | ENSP00000278947.5:p.His60Arg | |
| NM_004588.4:c.179A>G | NP_004579.1:p.His60Arg | |
| NM_004588.5:c.179A>G MANE Select | NP_004579.1:p.His60Arg |