Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.92419339G>C , CM000672.2:g.92419339G>C | GRCh38 |
| NC_000010.10:g.94179096G>C , CM000672.1:g.94179096G>C | GRCh37 |
| NC_000010.9:g.94169076G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000430958.1:n.673G>C | ||
| NR_038243.2:n.679G>C |