Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.56639315C>A , CM000678.2:g.56639315C>A | GRCh38 |
| NC_000016.9:g.56673227C>A , CM000678.1:g.56673227C>A | GRCh37 |
| NC_000016.8:g.55230728C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005946.3:c.80C>A MANE Select | NP_005937.2:p.Thr27Asn |
| ENST00000290705.12:c.80C>A MANE Select | ENSP00000290705.8:p.Thr27Asn |
| NM_005946.2:c.80C>A | NP_005937.2:p.Thr27Asn |
| ENST00000622334.1:c.80C>A | ENSP00000478425.1:p.Thr27Asn |