Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.73441869G= , CM000669.2:g.73441869G= | GRCh38 |
| NC_000007.13:g.72856199G= , CM000669.1:g.72856199G= | GRCh37 |
| NC_000007.12:g.72494135G= | NCBI36 |
| NG_027679.1:g.85417C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000339594.9:c.*16-176C= MANE Select | ENSP00000342434.4:n.*16-176C= | |
| ENST00000339594.8:c.*16-176C= | ENSP00000342434.4:n.*16-176C= | |
| ENST00000404251.1:c.*327C= | ENSP00000385442.1:n.*327C= | |
| NM_032408.3:c.*16-176C= | NP_115784.1:n.*16-176C= | |
| XM_017012773.2:c.*327C= | XP_016868262.1:n.*327C= | |
| NM_032408.4:c.*16-176C= MANE Select | NP_115784.1:n.*16-176C= | |
| NM_001370402.1:c.*327C= | NP_001357331.1:n.*327C= |