Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.167341443C>A , CM000668.2:g.167341443C>A | GRCh38 |
| NC_000006.11:g.167754931C>A , CM000668.1:g.167754931C>A | GRCh37 |
| NC_000006.10:g.167674921C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000239587.10:c.1543C>A MANE Select | ENSP00000239587.5:p.His515Asn | |
| ENST00000649884.1:c.1324C>A | ENSP00000497040.1:p.His442Asn | |
| ENST00000239587.9:c.1543C>A | ENSP00000239587.5:p.His515Asn | |
| ENST00000515138.1:c.1543C>A | ENSP00000424130.1:p.His515Asn | |
| NM_031949.4:c.1543C>A | NP_114155.4:p.His515Asn | |
| XM_006715572.2:c.1324C>A | XP_006715635.1:p.His442Asn | |
| XM_006715572.4:c.1324C>A | XP_006715635.1:p.His442Asn | |
| NM_031949.5:c.1543C>A MANE Select | NP_114155.4:p.His515Asn |