Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.12253785G>A , CM000663.2:g.12253785G>A | GRCh38 |
| NC_000001.10:g.12313842G>A , CM000663.1:g.12313842G>A | GRCh37 |
| NC_000001.9:g.12236429G>A | NCBI36 |
| NG_056877.1:g.28747G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_015378.4:c.628G>A MANE Select | NP_056193.2:p.Asp210Asn |
| ENST00000620676.6:c.628G>A MANE Select | ENSP00000478104.1:p.Asp210Asn |
| NM_015378.3:c.628G>A | NP_056193.2:p.Asp210Asn |
| NM_018156.3:c.628G>A | NP_060626.2:p.Asp210Asn |
| NM_018156.4:c.628G>A | NP_060626.2:p.Asp210Asn |
| ENST00000489961.1:n.52G>A | |
| ENST00000613099.4:c.628G>A | ENSP00000482233.1:p.Asp210Asn |
| ENST00000620676.4:c.628G>A | ENSP00000478104.1:p.Asp210Asn |