Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.16306360C>A , CM000668.2:g.16306360C>A | GRCh38 |
| NC_000006.11:g.16306591C>A , CM000668.1:g.16306591C>A | GRCh37 |
| NC_000006.10:g.16414570C>A | NCBI36 |
| NG_011571.1:g.460131G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000436367.6:c.2417G>T MANE Select | ENSP00000416360.1:p.Cys806Phe | |
| ENST00000244769.8:c.2417G>T | ENSP00000244769.3:p.Cys806Phe | |
| ENST00000436367.5:c.2417G>T | ENSP00000416360.1:p.Cys806Phe | |
| NM_000332.3:c.2417G>T | NP_000323.2:p.Cys806Phe | |
| NM_001128164.1:c.2417G>T | NP_001121636.1:p.Cys806Phe | |
| NM_001357857.1:c.*1830G>T | NP_001344786.1:n.*1830G>T | |
| NM_001357857.2:c.*1830G>T | NP_001344786.1:n.*1830G>T | |
| NM_001128164.2:c.2417G>T MANE Select | NP_001121636.1:p.Cys806Phe | |
| NM_000332.4:c.2417G>T | NP_000323.2:p.Cys806Phe |