Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.129822664C= , CM000671.2:g.129822664C= | GRCh38 |
| NC_000009.11:g.132584943C= , CM000671.1:g.132584943C= | GRCh37 |
| NC_000009.10:g.131624764C= | NCBI36 |
| NG_008049.1:g.6499G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000351698.5:c.361G= MANE Select | ENSP00000345719.4:p.Glu121= | |
| ENST00000651202.1:c.457G= | ENSP00000498222.1:p.Glu153= | |
| ENST00000351698.4:c.361G= | ENSP00000345719.4:p.Glu121= | |
| ENST00000473084.1:n.380G= | ||
| ENST00000473604.2:n.471G= | ||
| NM_000113.2:c.361G= | NP_000104.1:p.Glu121= | |
| XR_929731.1:n.521G= | ||
| XR_929731.3:n.389G= | ||
| NM_000113.3:c.361G= MANE Select | NP_000104.1:p.Glu121= |