Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.30993140T>A , CM000678.2:g.30993140T>A | GRCh38 |
| NC_000016.9:g.31004461T>A , CM000678.1:g.31004461T>A | GRCh37 |
| NC_000016.8:g.30911962T>A | NCBI36 |
| NG_041829.1:g.22369A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000215095.11:c.776A>T MANE Select | ENSP00000215095.5:p.Lys259Met | |
| ENST00000565419.2:c.776A>T | ENSP00000455899.1:p.Lys259Met | |
| ENST00000215095.9:c.776A>T | ENSP00000215095.5:p.Lys259Met | |
| ENST00000565419.1:c.776A>T | ENSP00000455899.1:p.Lys259Met | |
| ENST00000569638.5:c.524A>T | ENSP00000457067.1:p.Lys175Met | |
| NM_052874.4:c.776A>T | NP_443106.1:p.Lys259Met | |
| XM_017022893.1:c.758A>T | XP_016878382.1:p.Lys253Met | |
| NM_052874.5:c.776A>T MANE Select | NP_443106.1:p.Lys259Met |