Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.19466333C= , CM000686.2:g.19466333C= | GRCh38 |
| NC_000024.9:g.21628219C= , CM000686.1:g.21628219C= | GRCh37 |
| NC_000024.8:g.20087607C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_002923.2:n.1671+123G= | |
| NR_033732.1:n.1671+123G= | |
| ENST00000400605.5:n.1654+123G= | |
| ENST00000441139.5:n.1671+123G= | |
| ENST00000513194.1:n.4579+111G= | |
| ENST00000650676.1:n.1660+123G= |