Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.136056769C= , CM000667.2:g.136056769C= | GRCh38 |
| NC_000005.9:g.135392458C= , CM000667.1:g.135392458C= | GRCh37 |
| NC_000005.8:g.135420357C= | NCBI36 |
| NG_012646.1:g.32875C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000442011.7:c.1652C= MANE Select | ENSP00000416330.2:p.Pro551= | |
| ENST00000442011.6:c.1652C= | ENSP00000416330.2:p.Pro551= | |
| ENST00000506699.5:n.2169C= | ||
| ENST00000507018.5:c.1630C= | ||
| ENST00000509485.5:c.649C= | ||
| ENST00000514242.5:n.423C= | ||
| ENST00000514554.5:c.804C= | ||
| NM_000358.2:c.1652C= | NP_000349.1:p.Pro551= | |
| NM_000358.3:c.1652C= MANE Select | NP_000349.1:p.Pro551= |