Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32007071A>G , CM000668.2:g.32007071A>G | GRCh38 |
| NC_000006.11:g.31974848A>G , CM000668.1:g.31974848A>G | GRCh37 |
| NC_000006.10:g.32082826A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_040090.1:n.1140A>G | |
| ENST00000342991.10:n.1140A>G | |
| ENST00000354927.4:n.702A>G | |
| ENST00000623068.1:c.34T>C | ENSP00000485579.1:p.Leu12= |