Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.16940465G>C , CM000679.2:g.16940465G>C | GRCh38 |
| NC_000017.10:g.16843779G>C , CM000679.1:g.16843779G>C | GRCh37 |
| NC_000017.9:g.16784504G>C | NCBI36 |
| NG_007281.1:g.36624C>G , LRG_120:g.36624C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_012452.3:c.492C>G MANE Select | NP_036584.1:p.Tyr164Ter |
| ENST00000261652.7:c.492C>G MANE Select | ENSP00000261652.2:p.Tyr164Ter |
| NM_012452.2:c.492C>G , LRG_120t1:c.492C>G | NP_036584.1:p.Tyr164Ter |
| ENST00000261652.6:c.492C>G | ENSP00000261652.2:p.Tyr164Ter |
| ENST00000579009.1:n.598C>G | |
| ENST00000579315.5:c.446-7289C>G | ENSP00000464069.1:n.446-7289C>G |
| ENST00000582931.5:n.350-7528C>G | |
| ENST00000583789.1:c.354C>G | ENSP00000462952.1:p.Tyr118Ter |
| ENST00000584950.5:c.354C>G | ENSP00000463582.1:p.Tyr118Ter |