Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.4860231C= , CM000666.2:g.4860231C= | GRCh38 |
| NC_000004.11:g.4861958C= , CM000666.1:g.4861958C= | GRCh37 |
| NC_000004.10:g.4912859C= | NCBI36 |
| NG_008121.1:g.5567C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002448.3:c.332C= MANE Select | NP_002439.2:p.Ser111= |
| ENST00000382723.5:c.332C= MANE Select | ENSP00000372170.4:p.Ser111= |
| ENST00000382723.4:c.332C= | ENSP00000372170.4:p.Ser111= |