Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52675405G= , CM000674.2:g.52675405G= | GRCh38 |
| NC_000012.11:g.53069189G= , CM000674.1:g.53069189G= | GRCh37 |
| NC_000012.10:g.51355456G= | NCBI36 |
| NG_008364.1:g.10003C= | |
| NG_008364.2:g.10003C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252244.3:c.1723C= MANE Select | ENSP00000252244.3:p.His575= | |
| NM_006121.3:c.1723C= | NP_006112.3:p.His575= | |
| NM_006121.4:c.1723C= MANE Select | NP_006112.3:p.His575= |