Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154187988G>T , CM000685.2:g.154187988G>T | GRCh38 |
| NC_000023.10:g.153453477G>T , CM000685.1:g.153453477G>T | GRCh37 |
| NG_011606.1:g.10393G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000595290.6:c.331G>T MANE Select | ENSP00000472316.1:p.Val111Phe | |
| ENST00000595290.5:c.331G>T | ENSP00000472316.1:p.Val111Phe | |
| ENST00000595330.1:n.341G>T | ||
| NM_000513.2:c.331G>T MANE Select | NP_000504.1:p.Val111Phe |