Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.2838470C= , CM000671.2:g.2838470C= | GRCh38 |
| NC_000009.11:g.2838470C= , CM000671.1:g.2838470C= | GRCh37 |
| NC_000009.10:g.2828470C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397885.3:c.38G= MANE Select | ENSP00000380982.2:p.Ser13= | |
| ENST00000397885.2:c.38G= | ENSP00000380982.2:p.Ser13= | |
| NM_014878.4:c.38G= | NP_055693.4:p.Ser13= | |
| NM_014878.5:c.38G= MANE Select | NP_055693.4:p.Ser13= |