Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.136046343C= , CM000667.2:g.136046343C= | GRCh38 |
| NC_000005.9:g.135382032C= , CM000667.1:g.135382032C= | GRCh37 |
| NC_000005.8:g.135409931C= | NCBI36 |
| NG_012646.1:g.22449C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000442011.7:c.307C= MANE Select | ENSP00000416330.2:p.Leu103= | |
| ENST00000442011.6:c.307C= | ENSP00000416330.2:p.Leu103= | |
| ENST00000504185.5:n.464C= | ||
| ENST00000506699.5:n.372C= | ||
| ENST00000507018.5:c.224C= | ||
| ENST00000515433.1:n.599C= | ||
| NM_000358.2:c.307C= | NP_000349.1:p.Leu103= | |
| NM_000358.3:c.307C= MANE Select | NP_000349.1:p.Leu103= |