Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.16290530T= , CM000668.2:g.16290530T= | GRCh38 |
| NC_000006.11:g.16290761T= , CM000668.1:g.16290761T= | GRCh37 |
| NC_000006.10:g.16398740T= | NCBI36 |
| NG_013303.1:g.56951T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006877.4:c.766T= MANE Select | NP_006868.3:p.Phe256= |
| ENST00000259727.5:c.766T= MANE Select | ENSP00000259727.4:p.Phe256= |
| NM_006877.3:c.766T= | NP_006868.3:p.Phe256= |
| ENST00000259727.4:c.766T= | ENSP00000259727.4:p.Phe256= |
| ENST00000540478.1:n.586T= | |
| ENST00000543191.5:n.261T= | |
| ENST00000544145.1:n.120T= | |
| XM_011514508.1:c.909T= | XP_011512810.1:p.Cys303= |
| XM_011514508.2:c.909T= | XP_011512810.1:p.Cys303= |