Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.129559930A= , CM000670.2:g.129559930A= | GRCh38 |
| NC_000008.10:g.130572176A= , CM000670.1:g.130572176A= | GRCh37 |
| NC_000008.9:g.130641358A= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_130917.1:n.313-79240T= | ||
| NR_130918.1:n.137+14952T= | ||
| NR_130919.1:n.137+14952T= | ||
| NR_130920.1:n.137+14952T= |