Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.62855745G>A , CM000673.2:g.62855745G>A | GRCh38 |
| NC_000011.9:g.62623217G>A , CM000673.1:g.62623217G>A | GRCh37 |
| NC_000011.8:g.62379793G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_003098.1:n.24+120C>T | ||
| NR_003098.2:n.21+120C>T | ||
| NR_152575.1:n.141C>T | ||
| NR_152576.1:n.141C>T | ||
| NR_152577.1:n.21+120C>T | ||
| NR_152578.1:n.21+120C>T | ||
| NR_152579.1:n.21+120C>T | ||
| NR_152580.1:n.21+120C>T | ||
| NR_152581.1:n.21+120C>T | ||
| NR_152582.1:n.21+120C>T | ||
| NR_152583.1:n.21+120C>T | ||
| NR_152584.1:n.141C>T | ||
| NR_152585.1:n.141C>T |