Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.5044895C= , CM000674.2:g.5044895C= | GRCh38 |
| NC_000012.11:g.5154061C= , CM000674.1:g.5154061C= | GRCh37 |
| NC_000012.10:g.5024322C= | NCBI36 |
| NG_012198.1:g.5977C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252321.5:c.748C= MANE Select | ENSP00000252321.3:p.Arg250= | |
| ENST00000252321.4:c.748C= | ENSP00000252321.3:p.Arg250= | |
| NM_002234.3:c.748C= | NP_002225.2:p.Arg250= | |
| NM_002234.4:c.748C= MANE Select | NP_002225.2:p.Arg250= |