Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.3154621C>T , CM000668.2:g.3154621C>T | GRCh38 |
| NC_000006.11:g.3154855C>T , CM000668.1:g.3154855C>T | GRCh37 |
| NC_000006.10:g.3099854C>T | NCBI36 |
| NG_042223.1:g.7929G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001069.3:c.580G>A MANE Select | NP_001060.1:p.Glu194Lys |
| ENST00000333628.4:c.580G>A MANE Select | ENSP00000369703.2:p.Glu194Lys |
| NM_001069.2:c.580G>A | NP_001060.1:p.Glu194Lys |
| NM_001310315.1:c.325G>A | NP_001297244.1:p.Glu109Lys |
| NM_001310315.2:c.325G>A | NP_001297244.1:p.Glu109Lys |
| ENST00000333628.3:c.580G>A | ENSP00000369703.2:p.Glu194Lys |
| ENST00000489942.1:n.775G>A | |
| ENST00000679400.1:n.636G>A | |
| ENST00000679907.1:n.968G>A | |
| ENST00000680036.1:n.1362G>A | |
| ENST00000680967.1:n.1670G>A |