Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153725672C= , CM000685.2:g.153725672C= | GRCh38 |
| NC_000023.10:g.152991127C= , CM000685.1:g.152991127C= | GRCh37 |
| NC_000023.9:g.152644321C= | NCBI36 |
| NG_009022.2:g.5805C= | |
| NG_023231.1:g.4075G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218104.6:c.406C= MANE Select | ENSP00000218104.3:p.Gln136= | |
| ENST00000218104.5:c.406C= | ENSP00000218104.3:p.Gln136= | |
| NM_000033.3:c.406C= | NP_000024.2:p.Gln136= | |
| XR_938507.1:n.822C= | ||
| XR_938507.2:n.822C= | ||
| NM_000033.4:c.406C= MANE Select | NP_000024.2:p.Gln136= |