Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17401411C>T , CM000663.2:g.17401411C>T | GRCh38 |
| NC_000001.10:g.17727907C>T , CM000663.1:g.17727907C>T | GRCh37 |
| NC_000001.9:g.17600494C>T | NCBI36 |
| NG_032943.1:g.34166C>T | |
| NG_032943.2:g.34166C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000619609.1:c.2058C>T MANE Select | ENSP00000483125.1:p.Ala686= | |
| NM_207421.4:c.2058C>T MANE Select | NP_997304.3:p.Ala686= |