Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.189995376C= , CM000665.2:g.189995376C= | GRCh38 |
| NC_000003.11:g.189713165C= , CM000665.1:g.189713165C= | GRCh37 |
| NC_000003.10:g.191195859C= | NCBI36 |
| NG_031929.1:g.132062G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000319332.10:c.547G= MANE Select | ENSP00000316881.5:p.Glu183= | |
| ENST00000319332.9:c.547G= | ENSP00000316881.5:p.Glu183= | |
| ENST00000426003.1:c.4G= | ENSP00000394326.1:p.Glu2= | |
| ENST00000427335.6:c.4G= | ENSP00000408947.2:p.Glu2= | |
| ENST00000444866.5:c.4G= | ENSP00000391374.1:p.Glu2= | |
| NM_001134418.1:c.4G= | NP_001127890.1:p.Glu2= | |
| NM_018192.3:c.547G= | NP_060662.2:p.Glu183= | |
| XM_011512955.1:c.4G= | XP_011511257.1:p.Glu2= | |
| NM_018192.4:c.547G= MANE Select | NP_060662.2:p.Glu183= | |
| NM_001134418.2:c.4G= | NP_001127890.1:p.Glu2= |