Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.3154751C>A , CM000668.2:g.3154751C>A | GRCh38 |
| NC_000006.11:g.3154985C>A , CM000668.1:g.3154985C>A | GRCh37 |
| NC_000006.10:g.3099984C>A | NCBI36 |
| NG_042223.1:g.7799G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333628.4:c.450G>T MANE Select | ENSP00000369703.2:p.Leu150= | |
| ENST00000679400.1:n.506G>T | ||
| ENST00000679907.1:n.838G>T | ||
| ENST00000680036.1:n.1232G>T | ||
| ENST00000680967.1:n.1540G>T | ||
| ENST00000333628.3:c.450G>T | ENSP00000369703.2:p.Leu150= | |
| ENST00000489942.1:n.645G>T | ||
| NM_001069.2:c.450G>T | NP_001060.1:p.Leu150= | |
| NM_001310315.1:c.195G>T | NP_001297244.1:p.Leu65= | |
| NM_001069.3:c.450G>T MANE Select | NP_001060.1:p.Leu150= | |
| NM_001310315.2:c.195G>T | NP_001297244.1:p.Leu65= |