Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32007071A>T , CM000668.2:g.32007071A>T | GRCh38 |
| NC_000006.11:g.31974848A>T , CM000668.1:g.31974848A>T | GRCh37 |
| NC_000006.10:g.32082826A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342991.10:n.1140A>T | ||
| ENST00000354927.4:n.702A>T | ||
| ENST00000623068.1:c.34T>A | ENSP00000485579.1:p.Leu12Met | |
| NR_040090.1:n.1140A>T |