Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.3154784C>G , CM000668.2:g.3154784C>G | GRCh38 |
| NC_000006.11:g.3155018C>G , CM000668.1:g.3155018C>G | GRCh37 |
| NC_000006.10:g.3100017C>G | NCBI36 |
| NG_042223.1:g.7766G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333628.4:c.417G>C MANE Select | ENSP00000369703.2:p.Leu139= | |
| ENST00000679400.1:n.473G>C | ||
| ENST00000679907.1:n.805G>C | ||
| ENST00000680036.1:n.1199G>C | ||
| ENST00000680967.1:n.1507G>C | ||
| ENST00000333628.3:c.417G>C | ENSP00000369703.2:p.Leu139= | |
| ENST00000489942.1:n.612G>C | ||
| NM_001069.2:c.417G>C | NP_001060.1:p.Leu139= | |
| NM_001310315.1:c.162G>C | NP_001297244.1:p.Leu54= | |
| NM_001069.3:c.417G>C MANE Select | NP_001060.1:p.Leu139= | |
| NM_001310315.2:c.162G>C | NP_001297244.1:p.Leu54= |