Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52433808T>A , CM000674.2:g.52433808T>A | GRCh38 |
| NC_000012.11:g.52827592T>A , CM000674.1:g.52827592T>A | GRCh37 |
| NC_000012.10:g.51113859T>A | NCBI36 |
| NG_008403.1:g.5519A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252245.6:c.497A>T MANE Select | ENSP00000252245.5:p.Lys166Met | |
| ENST00000252245.5:c.497A>T | ENSP00000252245.5:p.Lys166Met | |
| NM_004693.2:c.497A>T | NP_004684.2:p.Lys166Met | |
| NM_004693.3:c.497A>T MANE Select | NP_004684.2:p.Lys166Met |