Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.3154850C= , CM000668.2:g.3154850C= | GRCh38 |
| NC_000006.11:g.3155084C= , CM000668.1:g.3155084C= | GRCh37 |
| NC_000006.10:g.3100083C= | NCBI36 |
| NG_042223.1:g.7700G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333628.4:c.351G= MANE Select | ENSP00000369703.2:p.Leu117= | |
| ENST00000679400.1:n.407G= | ||
| ENST00000679907.1:n.739G= | ||
| ENST00000680036.1:n.1133G= | ||
| ENST00000680967.1:n.1441G= | ||
| ENST00000333628.3:c.351G= | ENSP00000369703.2:p.Leu117= | |
| ENST00000489942.1:n.546G= | ||
| NM_001069.2:c.351G= | NP_001060.1:p.Leu117= | |
| NM_001310315.1:c.96G= | NP_001297244.1:p.Leu32= | |
| NM_001069.3:c.351G= MANE Select | NP_001060.1:p.Leu117= | |
| NM_001310315.2:c.96G= | NP_001297244.1:p.Leu32= |