Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.39731920A>C , CM000664.2:g.39731920A>C | GRCh38 |
| NC_000002.11:g.39959060A>C , CM000664.1:g.39959060A>C | GRCh37 |
| NC_000002.10:g.39812564A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| XM_024452702.1:c.401-3309A>C | XP_024308470.1:n.401-3309A>C |