Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.177290G= , CM000678.2:g.177290G= | GRCh38 |
| NC_000016.9:g.227289G= , CM000678.1:g.227289G= | GRCh37 |
| NC_000016.8:g.167289G= | NCBI36 |
| NG_000006.1:g.38153G= | |
| NG_059186.1:g.5640G= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000320868.9:c.308G= MANE Select | ENSP00000322421.5:p.Ser103= | |
| ENST00000397797.1:c.212G= | ENSP00000380899.1:p.Ser71= | |
| ENST00000472694.1:n.444G= | ||
| NM_000558.4:c.308G= | NP_000549.1:p.Ser103= | |
| NM_000558.5:c.308G= MANE Select | NP_000549.1:p.Ser103= |