Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.56594319C>T , CM000679.2:g.56594319C>T | GRCh38 |
| NC_000017.10:g.54671680C>T , CM000679.1:g.54671680C>T | GRCh37 |
| NC_000017.9:g.52026679C>T | NCBI36 |
| NG_011958.1:g.5621C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332822.6:c.96C>T MANE Select | ENSP00000328181.4:p.His32= | |
| ENST00000332822.4:c.96C>T | ENSP00000328181.4:p.His32= | |
| NM_005450.4:c.96C>T | NP_005441.1:p.His32= | |
| NM_005450.6:c.96C>T MANE Select | NP_005441.1:p.His32= |