Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52652120T>G , CM000674.2:g.52652120T>G | GRCh38 |
| NC_000012.11:g.53045904T>G , CM000674.1:g.53045904T>G | GRCh37 |
| NC_000012.10:g.51332171T>G | NCBI36 |
| NG_008296.1:g.5056A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309680.4:c.23A>C MANE Select | ENSP00000310861.3:p.Lys8Thr | |
| ENST00000309680.3:c.23A>C | ENSP00000310861.3:p.Lys8Thr | |
| NM_000423.2:c.23A>C | NP_000414.2:p.Lys8Thr | |
| NM_000423.3:c.23A>C MANE Select | NP_000414.2:p.Lys8Thr |