Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7455864C>T , CM000679.2:g.7455864C>T | GRCh38 |
| NC_000017.10:g.7359183C>T , CM000679.1:g.7359183C>T | GRCh37 |
| NC_000017.9:g.7299907C>T | NCBI36 |
| NG_008026.1:g.15778C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000306071.7:c.1288C>T MANE Select | ENSP00000304290.2:p.Leu430Phe | |
| ENST00000306071.6:c.1288C>T | ENSP00000304290.2:p.Leu430Phe | |
| ENST00000536404.6:c.1072C>T | ENSP00000439209.2:p.Leu358Phe | |
| ENST00000575379.1:c.-105C>T | ENSP00000461751.1:n.-105C>T | |
| ENST00000576360.1:c.925C>T | ENSP00000459092.1:p.Leu309Phe | |
| NM_000747.2:c.1288C>T | NP_000738.2:p.Leu430Phe | |
| NM_000747.3:c.1288C>T MANE Select | NP_000738.2:p.Leu430Phe |