Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.27645655T= , CM000673.2:g.27645655T= | GRCh38 |
| NC_000011.9:g.27667202T= , CM000673.1:g.27667202T= | GRCh37 |
| NC_000011.8:g.27623778T= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_002832.2:n.374+5650T= | |
| NR_033312.1:n.305+5650T= | |
| NR_033313.1:n.305+5650T= | |
| NR_033314.1:n.374+5650T= | |
| NR_033315.1:n.305+5650T= |