Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17401355C= , CM000663.2:g.17401355C= | GRCh38 |
| NC_000001.10:g.17727851C= , CM000663.1:g.17727851C= | GRCh37 |
| NC_000001.9:g.17600438C= | NCBI36 |
| NG_032943.1:g.34110C= | |
| NG_032943.2:g.34110C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000619609.1:c.2002C= MANE Select | ENSP00000483125.1:p.Leu668= | |
| NM_207421.4:c.2002C= MANE Select | NP_997304.3:p.Leu668= |