Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.12352183T>C , CM000686.2:g.12352183T>C | GRCh38 |
| NC_000024.9:g.14472914T>C , CM000686.1:g.14472914T>C | GRCh37 |
| NC_000024.8:g.12982922T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000651802.1:n.450+54201A>G | |
| ENST00000651835.1:n.319+54613A>G |