Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.19466448A>C , CM000686.2:g.19466448A>C | GRCh38 |
| NC_000024.9:g.21628334A>C , CM000686.1:g.21628334A>C | GRCh37 |
| NC_000024.8:g.20087722A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_002923.2:n.1671+8T>G | |
| NR_033732.1:n.1671+8T>G | |
| ENST00000400605.5:n.1654+8T>G | |
| ENST00000441139.5:n.1671+8T>G | |
| ENST00000513194.1:n.4575T>G | |
| ENST00000650676.1:n.1660+8T>G |