Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.73442300A>T , CM000666.2:g.73442300A>T | GRCh38 |
| NC_000004.11:g.74308017A>T , CM000666.1:g.74308017A>T | GRCh37 |
| NC_000004.10:g.74526881A>T | NCBI36 |
| NG_023028.1:g.11085A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395792.7:c.487A>T MANE Select | ENSP00000379138.2:p.Ile163Phe | |
| ENST00000226359.2:c.487A>T | ENSP00000226359.2:p.Ile163Phe | |
| ENST00000395792.6:c.487A>T | ENSP00000379138.2:p.Ile163Phe | |
| NM_001134.2:c.487A>T | NP_001125.1:p.Ile163Phe | |
| XM_011531704.1:c.484A>T | XP_011530006.1:p.Ile162Phe | |
| NM_001354717.1:c.13A>T | NP_001341646.1:p.Ile5Phe | |
| NM_001134.3:c.487A>T MANE Select | NP_001125.1:p.Ile163Phe | |
| NM_001354717.2:c.13A>T | NP_001341646.2:p.Ile5Phe |