Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.133538893C>A , CM000672.2:g.133538893C>A | GRCh38 |
| NC_000010.10:g.135352397C>A , CM000672.1:g.135352397C>A | GRCh37 |
| NC_000010.9:g.135202387C>A | NCBI36 |
| NG_008383.1:g.16531C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252945.8:c.1411C>A MANE Select | ENSP00000252945.3:p.Leu471Ile | |
| ENST00000252945.7:c.1411C>A | ENSP00000252945.3:p.Leu471Ile | |
| ENST00000368520.1:n.1358+1001C>A | ||
| ENST00000463117.6:c.1411C>A | ENSP00000440689.1:p.Leu471Ile | |
| ENST00000469258.1:n.507C>A | ||
| NM_000773.3:c.1411C>A | NP_000764.1:p.Leu471Ile | |
| NM_000773.4:c.1411C>A MANE Select | NP_000764.1:p.Leu471Ile |