Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17401440C= , CM000663.2:g.17401440C= | GRCh38 |
| NC_000001.10:g.17727936C= , CM000663.1:g.17727936C= | GRCh37 |
| NC_000001.9:g.17600523C= | NCBI36 |
| NG_032943.1:g.34195C= | |
| NG_032943.2:g.34195C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000619609.1:c.*2C= MANE Select | ENSP00000483125.1:n.*2C= | |
| NM_207421.4:c.*2C= MANE Select | NP_997304.3:n.*2C= |