Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.80591672C>A , CM000677.2:g.80591672C>A | GRCh38 |
| NC_000015.9:g.80884013C>A , CM000677.1:g.80884013C>A | GRCh37 |
| NC_000015.8:g.78671068C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303329.9:c.2023C>A MANE Select | ENSP00000307479.4:p.His675Asn | |
| ENST00000303329.8:c.2023C>A | ENSP00000307479.4:p.His675Asn | |
| ENST00000527771.5:c.1990C>A | ENSP00000453792.1:p.His664Asn | |
| ENST00000533983.5:c.1990C>A | ENSP00000453651.1:p.His664Asn | |
| ENST00000610490.4:c.*321C>A | ENSP00000483762.1:n.*321C>A | |
| ENST00000622346.4:c.2023C>A | ENSP00000479393.1:p.His675Asn | |
| NM_014862.3:c.2023C>A | NP_055677.3:p.His675Asn | |
| NM_014862.4:c.2023C>A MANE Select | NP_055677.3:p.His675Asn |