Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52675378T= , CM000674.2:g.52675378T= | GRCh38 |
| NC_000012.11:g.53069162T= , CM000674.1:g.53069162T= | GRCh37 |
| NC_000012.10:g.51355429T= | NCBI36 |
| NG_008364.1:g.10030A= | |
| NG_008364.2:g.10030A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252244.3:c.1750A= MANE Select | ENSP00000252244.3:p.Ser584= | |
| NM_006121.3:c.1750A= | NP_006112.3:p.Ser584= | |
| NM_006121.4:c.1750A= MANE Select | NP_006112.3:p.Ser584= |