Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.88322656G>A , CM000666.2:g.88322656G>A | GRCh38 |
| NC_000004.11:g.89243808G>A , CM000666.1:g.89243808G>A | GRCh37 |
| NC_000004.10:g.89462832G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_244670.3:n.641+3231G>A | ||
| XR_938963.1:n.641+3231G>A | ||
| NR_134236.1:n.425+3231G>A | ||
| NR_134237.1:n.349+3231G>A | ||
| NR_134238.1:n.330+5849G>A |