Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186085327C= , CM000666.2:g.186085327C= | GRCh38 |
| NC_000004.11:g.187006481C= , CM000666.1:g.187006481C= | GRCh37 |
| NC_000004.10:g.187243475C= | NCBI36 |
| NG_007278.1:g.21173C= , LRG_117:g.21173C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698352.1:c.*2721C= | ENSP00000513675.1:n.*2721C= | |
| ENST00000698353.1:n.3044C= | ||
| ENST00000698354.1:c.*454C= | ENSP00000513676.1:n.*454C= | |
| ENST00000296795.8:c.*454C= MANE Select | ENSP00000296795.3:n.*454C= | |
| ENST00000296795.7:c.*454C= | ENSP00000296795.2:n.*454C= | |
| NM_003265.3:c.*454C= MANE Select | NP_003256.1:n.*454C= |