Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.231513520T>C , CM000664.2:g.231513520T>C | GRCh38 |
| NC_000002.11:g.232378231T>C , CM000664.1:g.232378231T>C | GRCh37 |
| NC_000002.10:g.232086475T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_024079.1:n.364+7A>G |