Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.73441901G= , CM000669.2:g.73441901G= | GRCh38 |
| NC_000007.13:g.72856231G= , CM000669.1:g.72856231G= | GRCh37 |
| NC_000007.12:g.72494167G= | NCBI36 |
| NG_027679.1:g.85385C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000339594.9:c.*16-208C= MANE Select | ENSP00000342434.4:n.*16-208C= | |
| ENST00000339594.8:c.*16-208C= | ENSP00000342434.4:n.*16-208C= | |
| ENST00000404251.1:c.*295C= | ENSP00000385442.1:n.*295C= | |
| NM_032408.3:c.*16-208C= | NP_115784.1:n.*16-208C= | |
| XM_017012773.2:c.*295C= | XP_016868262.1:n.*295C= | |
| NM_032408.4:c.*16-208C= MANE Select | NP_115784.1:n.*16-208C= | |
| NM_001370402.1:c.*295C= | NP_001357331.1:n.*295C= |