Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.28162356A>G , CM000668.2:g.28162356A>G | GRCh38 |
| NC_000006.11:g.28130134A>G , CM000668.1:g.28130134A>G | GRCh37 |
| NC_000006.10:g.28238113A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000562227.2:n.54-253A>G | ||
| ENST00000440790.6:n.42-224A>G | ||
| ENST00000570126.1:n.31-224A>G | ||
| NR_103448.1:n.62-224A>G |