Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57764118C= , CM000674.2:g.57764118C= | GRCh38 |
| NC_000012.11:g.58157901C= , CM000674.1:g.58157901C= | GRCh37 |
| NC_000012.10:g.56444168C= | NCBI36 |
| NG_007076.1:g.8076G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000713544.1:c.1276G= | ENSP00000518840.1:p.Asp426= | |
| ENST00000713545.1:c.*200G= | ENSP00000518841.1:n.*200G= | |
| ENST00000228606.9:c.1195G= MANE Select | ENSP00000228606.4:p.Asp399= | |
| ENST00000228606.8:c.1195G= | ENSP00000228606.4:p.Asp399= | |
| ENST00000547344.5:n.1334G= | ||
| NM_000785.3:c.1195G= | NP_000776.1:p.Asp399= | |
| NM_000785.4:c.1195G= MANE Select | NP_000776.1:p.Asp399= |