Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.128546840T>C , CM000670.2:g.128546840T>C | GRCh38 |
| NC_000008.10:g.129559086T>C , CM000670.1:g.129559086T>C | GRCh37 |
| NC_000008.9:g.129628268T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_121672.1:n.508+14230A>G |