Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.46010931A>T , CM000682.2:g.46010931A>T | GRCh38 |
| NC_000020.10:g.44639570A>T , CM000682.1:g.44639570A>T | GRCh37 |
| NC_000020.9:g.44072977A>T | NCBI36 |
| NG_011468.1:g.7024A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372330.3:c.530A>T MANE Select | ENSP00000361405.3:p.Asp177Val | |
| NM_004994.2:c.530A>T | NP_004985.2:p.Asp177Val | |
| NM_004994.3:c.530A>T MANE Select | NP_004985.2:p.Asp177Val |