Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.133538887A>C , CM000672.2:g.133538887A>C | GRCh38 |
| NC_000010.10:g.135352391A>C , CM000672.1:g.135352391A>C | GRCh37 |
| NC_000010.9:g.135202381A>C | NCBI36 |
| NG_008383.1:g.16525A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252945.8:c.1405A>C MANE Select | ENSP00000252945.3:p.Ile469Leu | |
| ENST00000252945.7:c.1405A>C | ENSP00000252945.3:p.Ile469Leu | |
| ENST00000368520.1:n.1358+995A>C | ||
| ENST00000463117.6:c.1405A>C | ENSP00000440689.1:p.Ile469Leu | |
| ENST00000469258.1:n.501A>C | ||
| NM_000773.3:c.1405A>C | NP_000764.1:p.Ile469Leu | |
| NM_000773.4:c.1405A>C MANE Select | NP_000764.1:p.Ile469Leu |