Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5225599T>G , CM000673.2:g.5225599T>G | GRCh38 |
| NC_000011.9:g.5246829T>G , CM000673.1:g.5246829T>G | GRCh37 |
| NC_000011.8:g.5203405T>G | NCBI36 |
| NG_000007.3:g.72017A>C | |
| NG_059281.1:g.6473A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.443A>C | ENSP00000494175.1:p.Ter148Ser | |
| ENST00000335295.4:c.443A>C MANE Select | ENSP00000333994.3:p.Ter148Ser | |
| ENST00000633227.1:c.*259A>C | ENSP00000488004.1:n.*259A>C | |
| NM_000518.4:c.443A>C | NP_000509.1:p.Ter148Ser | |
| NM_000518.5:c.443A>C MANE Select | NP_000509.1:p.Ter148Ser |