Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.30904718G>C , CM000678.2:g.30904718G>C | GRCh38 |
| NC_000016.9:g.30916039G>C , CM000678.1:g.30916039G>C | GRCh37 |
| NC_000016.8:g.30823540G>C | NCBI36 |
| NG_009171.1:g.13112G>C , LRG_408:g.13112G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000412003.1:n.234C>G |