Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.40354063G>C , CM000668.2:g.40354063G>C | GRCh38 |
| NC_000006.11:g.40321802G>C , CM000668.1:g.40321802G>C | GRCh37 |
| NC_000006.10:g.40429780G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_038887.1:n.1944C>G |