Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.3154496C= , CM000668.2:g.3154496C= | GRCh38 |
| NC_000006.11:g.3154730C= , CM000668.1:g.3154730C= | GRCh37 |
| NC_000006.10:g.3099729C= | NCBI36 |
| NG_042223.1:g.8054G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333628.4:c.705G= MANE Select | ENSP00000369703.2:p.Gly235= | |
| ENST00000679400.1:n.761G= | ||
| ENST00000679907.1:n.1093G= | ||
| ENST00000680036.1:n.1487G= | ||
| ENST00000680967.1:n.1795G= | ||
| ENST00000333628.3:c.705G= | ENSP00000369703.2:p.Gly235= | |
| NM_001069.2:c.705G= | NP_001060.1:p.Gly235= | |
| NM_001310315.1:c.450G= | NP_001297244.1:p.Gly150= | |
| NM_001069.3:c.705G= MANE Select | NP_001060.1:p.Gly235= | |
| NM_001310315.2:c.450G= | NP_001297244.1:p.Gly150= |