Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.6583488G>C , CM000668.2:g.6583488G>C | GRCh38 |
| NC_000006.11:g.6583721G>C , CM000668.1:g.6583721G>C | GRCh37 |
| NC_000006.10:g.6528720G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_026970.1:n.196-13999C>G |