Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.133373329G= , CM000672.2:g.133373329G= | GRCh38 |
| NC_000010.10:g.135186833G= , CM000672.1:g.135186833G= | GRCh37 |
| NC_000010.9:g.135036823G= | NCBI36 |
| NG_042077.1:g.5076C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004092.4:c.5C= MANE Select | NP_004083.3:p.Ala2= |
| ENST00000368547.4:c.5C= MANE Select | ENSP00000357535.3:p.Ala2= |
| NM_004092.3:c.5C= | NP_004083.3:p.Ala2= |
| ENST00000368547.3:c.5C= | ENSP00000357535.3:p.Ala2= |
| XR_002956965.1:n.68C= |