Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.88322713A>G , CM000666.2:g.88322713A>G | GRCh38 |
| NC_000004.11:g.89243865A>G , CM000666.1:g.89243865A>G | GRCh37 |
| NC_000004.10:g.89462889A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| XR_244670.3:n.641+3288A>G | ||
| XR_938963.1:n.641+3288A>G | ||
| NR_134236.1:n.425+3288A>G | ||
| NR_134237.1:n.349+3288A>G | ||
| NR_134238.1:n.330+5906A>G |