Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.27638153C>T , CM000673.2:g.27638153C>T | GRCh38 |
| NC_000011.9:g.27659700C>T , CM000673.1:g.27659700C>T | GRCh37 |
| NC_000011.8:g.27616276C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_002832.2:n.214-1692C>T | ||
| NR_033312.1:n.145-1692C>T | ||
| NR_033313.1:n.145-1692C>T | ||
| NR_033314.1:n.214-1692C>T | ||
| NR_033315.1:n.145-1692C>T |