Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.48527264C>A , CM000685.2:g.48527264C>A | GRCh38 |
| NC_000023.10:g.48385652C>A , CM000685.1:g.48385652C>A | GRCh37 |
| NC_000023.9:g.48270596C>A | NCBI36 |
| NG_007452.1:g.10489C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000495186.6:c.448C>A MANE Select | ENSP00000417052.1:p.Leu150Ile | |
| ENST00000651615.1:c.448C>A | ENSP00000498524.1:p.Leu150Ile | |
| ENST00000276096.10:n.406C>A | ||
| ENST00000446158.5:c.448C>A | ENSP00000390031.1:p.Leu150Ile | |
| ENST00000466461.1:n.287C>A | ||
| ENST00000495186.5:c.448C>A | ENSP00000417052.1:p.Leu150Ile | |
| ENST00000498425.1:n.569C>A | ||
| NM_006579.2:c.448C>A | NP_006570.1:p.Leu150Ile | |
| NM_006579.3:c.448C>A MANE Select | NP_006570.1:p.Leu150Ile |