Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.19466366A>G , CM000686.2:g.19466366A>G | GRCh38 |
| NC_000024.9:g.21628252A>G , CM000686.1:g.21628252A>G | GRCh37 |
| NC_000024.8:g.20087640A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650676.1:n.1660+90T>C | ||
| ENST00000400605.5:n.1654+90T>C | ||
| ENST00000441139.5:n.1671+90T>C | ||
| ENST00000513194.1:n.4579+78T>C | ||
| NR_002923.2:n.1671+90T>C | ||
| NR_033732.1:n.1671+90T>C |