Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.96416050T>A , CM000667.2:g.96416050T>A | GRCh38 |
| NC_000005.9:g.95751754T>A , CM000667.1:g.95751754T>A | GRCh37 |
| NC_000005.8:g.95777510T>A | NCBI36 |
| NG_021161.1:g.22232A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311106.8:c.692A>T MANE Select | ENSP00000308024.2:p.Tyr231Phe | |
| ENST00000311106.7:c.692A>T | ENSP00000308024.2:p.Tyr231Phe | |
| ENST00000508626.5:c.551A>T | ENSP00000421600.1:p.Tyr184Phe | |
| NM_000439.4:c.692A>T | NP_000430.3:p.Tyr231Phe | |
| NM_001177875.1:c.551A>T | NP_001171346.1:p.Tyr184Phe | |
| NR_130776.1:n.354+36398T>A | ||
| NM_000439.5:c.692A>T MANE Select | NP_000430.3:p.Tyr231Phe | |
| NM_001177875.2:c.551A>T | NP_001171346.1:p.Tyr184Phe |