Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.129822779G= , CM000671.2:g.129822779G= | GRCh38 |
| NC_000009.11:g.132585058G= , CM000671.1:g.132585058G= | GRCh37 |
| NC_000009.10:g.131624879G= | NCBI36 |
| NG_008049.1:g.6384C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000113.3:c.246C= MANE Select | NP_000104.1:p.Ala82= |
| ENST00000351698.5:c.246C= MANE Select | ENSP00000345719.4:p.Ala82= |
| NM_000113.2:c.246C= | NP_000104.1:p.Ala82= |
| ENST00000351698.4:c.246C= | ENSP00000345719.4:p.Ala82= |
| ENST00000473084.1:n.265C= | |
| ENST00000473604.2:n.356C= | |
| ENST00000651202.1:c.342C= | ENSP00000498222.1:p.Ala114= |
| XR_929731.1:n.406C= | |
| XR_929731.3:n.274C= |