Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.145043897T>C , CM000664.2:g.145043897T>C | GRCh38 |
| NC_000002.11:g.145801464T>C , CM000664.1:g.145801464T>C | GRCh37 |
| NC_000002.10:g.145517934T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_033870.2:n.464-26923T>C | |
| XR_923410.2:n.1051+20624T>C | |
| XR_923411.1:n.200+20624T>C |