Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.129813728G= , CM000671.2:g.129813728G= | GRCh38 |
| NC_000009.11:g.132576007G= , CM000671.1:g.132576007G= | GRCh37 |
| NC_000009.10:g.131615828G= | NCBI36 |
| NG_008049.1:g.15435C= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000351698.5:c.*244C= MANE Select | ENSP00000345719.4:n.*244C= | |
| ENST00000651202.1:c.*511C= | ENSP00000498222.1:n.*511C= | |
| ENST00000351698.4:c.*244C= | ENSP00000345719.4:n.*244C= | |
| ENST00000474192.1:n.827C= | ||
| NM_000113.2:c.*244C= | NP_000104.1:n.*244C= | |
| XR_929731.3:n.1438C= | ||
| NM_000113.3:c.*244C= MANE Select | NP_000104.1:n.*244C= |