Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94947782C= , CM000672.2:g.94947782C= | GRCh38 |
| NC_000010.10:g.96707539C= , CM000672.1:g.96707539C= | GRCh37 |
| NC_000010.9:g.96697529C= | NCBI36 |
| NG_008385.1:g.14125C= | |
| NG_008385.2:g.14625C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000771.4:c.485C= MANE Select | NP_000762.2:p.Ser162= |
| ENST00000260682.8:c.485C= MANE Select | ENSP00000260682.6:p.Ser162= |
| NM_000771.3:c.485C= | NP_000762.2:p.Ser162= |
| ENST00000260682.6:c.485C= | ENSP00000260682.6:p.Ser162= |
| ENST00000473496.1:n.256C= | |
| ENST00000643112.1:c.485C= | ENSP00000496202.1:p.Ser162= |
| ENST00000645207.1:n.638C= |