Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.128547070G>T , CM000670.2:g.128547070G>T | GRCh38 |
| NC_000008.10:g.129559316G>T , CM000670.1:g.129559316G>T | GRCh37 |
| NC_000008.9:g.129628498G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_121672.1:n.508+14000C>A |