Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.184060247G= , CM000665.2:g.184060247G= | GRCh38 |
| NC_000003.11:g.183778035G= , CM000665.1:g.183778035G= | GRCh37 |
| NC_000003.10:g.185260729G= | NCBI36 |
| NG_012749.1:g.12201G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318351.2:c.1239G= MANE Select | ENSP00000322617.1:p.Glu413= | |
| ENST00000318351.1:c.1239G= | ENSP00000322617.1:p.Glu413= | |
| NM_130770.2:c.1239G= | NP_570126.2:p.Glu413= | |
| NM_130770.3:c.1239G= MANE Select | NP_570126.2:p.Glu413= |