Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52433811T>C , CM000674.2:g.52433811T>C | GRCh38 |
| NC_000012.11:g.52827595T>C , CM000674.1:g.52827595T>C | GRCh37 |
| NC_000012.10:g.51113862T>C | NCBI36 |
| NG_008403.1:g.5516A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252245.6:c.494A>G MANE Select | ENSP00000252245.5:p.Asp165Gly | |
| ENST00000252245.5:c.494A>G | ENSP00000252245.5:p.Asp165Gly | |
| NM_004693.2:c.494A>G | NP_004684.2:p.Asp165Gly | |
| NM_004693.3:c.494A>G MANE Select | NP_004684.2:p.Asp165Gly |