Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.72122794C>T , CM000679.2:g.72122794C>T | GRCh38 |
| NC_000017.10:g.70118935C>T , CM000679.1:g.70118935C>T | GRCh37 |
| NC_000017.9:g.67630530C>T | NCBI36 |
| NG_012490.1:g.6775C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000245479.3:c.507C>T MANE Select | ENSP00000245479.2:p.His169= | |
| ENST00000245479.2:c.507C>T | ENSP00000245479.2:p.His169= | |
| NM_000346.3:c.507C>T | NP_000337.1:p.His169= | |
| NM_000346.4:c.507C>T MANE Select | NP_000337.1:p.His169= |