Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.110915743G= , CM000674.2:g.110915743G= | GRCh38 |
| NC_000012.11:g.111353547G= , CM000674.1:g.111353547G= | GRCh37 |
| NC_000012.10:g.109837930G= | NCBI36 |
| NG_007554.1:g.9835C= , LRG_393:g.9835C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000432.4:c.141C= MANE Select | NP_000423.2:p.Asn47= |
| ENST00000228841.15:c.141C= MANE Select | ENSP00000228841.8:p.Asn47= |
| NM_000432.3:c.141C= , LRG_393t1:c.141C= | NP_000423.2:p.Asn47= |
| ENST00000228841.12:c.141C= | ENSP00000228841.7:p.Asn47= |
| ENST00000548438.1:c.94-1419C= | ENSP00000447154.1:n.94-1419C= |
| ENST00000663220.1:c.84C= | ENSP00000499568.1:p.Asn28= |