Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.12272197G= , CM000686.2:g.12272197G= | GRCh38 |
| NC_000024.9:g.14392901G= , CM000686.1:g.14392901G= | GRCh37 |
| NC_000024.8:g.12902908G= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000651802.1:n.451-30789C= | ||
| ENST00000651835.1:n.320-14166C= |