Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.19466226C>T , CM000686.2:g.19466226C>T | GRCh38 |
| NC_000024.9:g.21628112C>T , CM000686.1:g.21628112C>T | GRCh37 |
| NC_000024.8:g.20087500C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650676.1:n.1660+230G>A | ||
| ENST00000400605.5:n.1654+230G>A | ||
| ENST00000441139.5:n.1671+230G>A | ||
| ENST00000513194.1:n.4579+218G>A | ||
| NR_002923.2:n.1671+230G>A | ||
| NR_033732.1:n.1671+230G>A |