Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.16992890G= , CM000670.2:g.16992890G= | GRCh38 |
| NC_000008.10:g.16850399G= , CM000670.1:g.16850399G= | GRCh37 |
| NC_000008.9:g.16894770G= | NCBI36 |
| NG_015978.1:g.14276C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_019851.3:c.*182C= MANE Select | NP_062825.1:n.*182C= |
| ENST00000180166.6:c.*182C= MANE Select | ENSP00000180166.5:n.*182C= |
| NM_019851.2:c.*182C= | NP_062825.1:n.*182C= |
| ENST00000180166.5:c.*182C= | ENSP00000180166.5:n.*182C= |