Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32010012A>G , CM000668.2:g.32010012A>G | GRCh38 |
| NC_000006.11:g.31977789A>G , CM000668.1:g.31977789A>G | GRCh37 |
| NC_000006.10:g.32085767A>G | NCBI36 |
| NG_011639.1:g.219A>G , LRG_138:g.219A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_001284.2:n.1865T>C | |
| ENST00000507684.1:n.1314T>C |