Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23375831A>T , CM000676.2:g.23375831A>T | GRCh38 |
| NC_000014.8:g.23845040A>T , CM000676.1:g.23845040A>T | GRCh37 |
| NC_000014.7:g.22914880A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397242.3:c.437A>T MANE Select | ENSP00000380417.2:p.Tyr146Phe | |
| ENST00000329715.2:c.485A>T | ENSP00000328111.2:p.Tyr162Phe | |
| ENST00000397242.2:c.437A>T | ENSP00000380417.2:p.Tyr146Phe | |
| NM_022789.3:c.485A>T | NP_073626.1:p.Tyr162Phe | |
| NM_172314.1:c.437A>T | NP_758525.1:p.Tyr146Phe |