Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.3154852G>A , CM000668.2:g.3154852G>A | GRCh38 |
| NC_000006.11:g.3155086G>A , CM000668.1:g.3155086G>A | GRCh37 |
| NC_000006.10:g.3100085G>A | NCBI36 |
| NG_042223.1:g.7698C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333628.4:c.349C>T MANE Select | ENSP00000369703.2:p.Leu117= | |
| ENST00000679400.1:n.405C>T | ||
| ENST00000679907.1:n.737C>T | ||
| ENST00000680036.1:n.1131C>T | ||
| ENST00000680967.1:n.1439C>T | ||
| ENST00000333628.3:c.349C>T | ENSP00000369703.2:p.Leu117= | |
| ENST00000489942.1:n.544C>T | ||
| NM_001069.2:c.349C>T | NP_001060.1:p.Leu117= | |
| NM_001310315.1:c.94C>T | NP_001297244.1:p.Leu32= | |
| NM_001069.3:c.349C>T MANE Select | NP_001060.1:p.Leu117= | |
| NM_001310315.2:c.94C>T | NP_001297244.1:p.Leu32= |