Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.16306438C>T , CM000668.2:g.16306438C>T | GRCh38 |
| NC_000006.11:g.16306669C>T , CM000668.1:g.16306669C>T | GRCh37 |
| NC_000006.10:g.16414648C>T | NCBI36 |
| NG_011571.1:g.460053G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000436367.6:c.2339G>A MANE Select | ENSP00000416360.1:p.Arg780His | |
| ENST00000244769.8:c.2339G>A | ENSP00000244769.3:p.Arg780His | |
| ENST00000436367.5:c.2339G>A | ENSP00000416360.1:p.Arg780His | |
| NM_000332.3:c.2339G>A | NP_000323.2:p.Arg780His | |
| NM_001128164.1:c.2339G>A | NP_001121636.1:p.Arg780His | |
| NM_001357857.1:c.*1752G>A | NP_001344786.1:n.*1752G>A | |
| NM_001357857.2:c.*1752G>A | NP_001344786.1:n.*1752G>A | |
| NM_001128164.2:c.2339G>A MANE Select | NP_001121636.1:p.Arg780His | |
| NM_000332.4:c.2339G>A | NP_000323.2:p.Arg780His |