Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.46011185A>T , CM000682.2:g.46011185A>T | GRCh38 |
| NC_000020.10:g.44639824A>T , CM000682.1:g.44639824A>T | GRCh37 |
| NC_000020.9:g.44073231A>T | NCBI36 |
| NG_011468.1:g.7278A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372330.3:c.692A>T MANE Select | ENSP00000361405.3:p.His231Leu | |
| NM_004994.2:c.692A>T | NP_004985.2:p.His231Leu | |
| NM_004994.3:c.692A>T MANE Select | NP_004985.2:p.His231Leu |