Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.27648561T>G , CM000673.2:g.27648561T>G | GRCh38 |
| NC_000011.9:g.27670108T>G , CM000673.1:g.27670108T>G | GRCh37 |
| NC_000011.8:g.27626684T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_002832.2:n.374+8556T>G | |
| NR_033312.1:n.305+8556T>G | |
| NR_033313.1:n.305+8556T>G | |
| NR_033314.1:n.374+8556T>G | |
| NR_033315.1:n.305+8556T>G |