Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.51845087A>C , CM000664.2:g.51845087A>C | GRCh38 |
| NC_000002.11:g.52072225A>C , CM000664.1:g.52072225A>C | GRCh37 |
| NC_000002.10:g.51925729A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_245003.1:n.840-16362A>C | ||
| NR_135237.1:n.840-16362A>C |