Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.241801868C>A , CM000664.2:g.241801868C>A | GRCh38 |
| NC_000002.11:g.242741283C>A , CM000664.1:g.242741283C>A | GRCh37 |
| NC_000002.10:g.242389956C>A | NCBI36 |
| NG_046977.1:g.30044C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000192314.7:c.207C>A MANE Select | ENSP00000192314.6:p.Asn69Lys | |
| ENST00000192314.6:c.207C>A | ENSP00000192314.6:p.Asn69Lys | |
| NM_022134.2:c.207C>A | NP_071417.2:p.Asn69Lys | |
| NM_022134.3:c.207C>A MANE Select | NP_071417.2:p.Asn69Lys |