Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.155463226C= , CM000669.2:g.155463226C= | GRCh38 |
| NC_000007.13:g.155255921C= , CM000669.1:g.155255921C= | GRCh37 |
| NC_000007.12:g.154948682C= | NCBI36 |
| NG_007124.1:g.11507C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297375.4:c.*539C= MANE Select | ENSP00000297375.4:n.*539C= | |
| NM_001427.3:c.*539C= | NP_001418.2:n.*539C= | |
| NM_001427.4:c.*539C= MANE Select | NP_001418.2:n.*539C= |