Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.129814091C= , CM000671.2:g.129814091C= | GRCh38 |
| NC_000009.11:g.132576370C= , CM000671.1:g.132576370C= | GRCh37 |
| NC_000009.10:g.131616191C= | NCBI36 |
| NG_008049.1:g.15072G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000351698.5:c.880G= MANE Select | ENSP00000345719.4:p.Glu294= | |
| ENST00000651202.1:c.*148G= | ENSP00000498222.1:n.*148G= | |
| ENST00000351698.4:c.880G= | ENSP00000345719.4:p.Glu294= | |
| ENST00000474192.1:n.464G= | ||
| NM_000113.2:c.880G= | NP_000104.1:p.Glu294= | |
| XR_929731.1:n.1207G= | ||
| XR_929731.3:n.1075G= | ||
| NM_000113.3:c.880G= MANE Select | NP_000104.1:p.Glu294= |