Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.88322666C= , CM000666.2:g.88322666C= | GRCh38 |
| NC_000004.11:g.89243818C= , CM000666.1:g.89243818C= | GRCh37 |
| NC_000004.10:g.89462842C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_134236.1:n.425+3241C= | |
| NR_134237.1:n.349+3241C= | |
| NR_134238.1:n.330+5859C= | |
| XR_244670.3:n.641+3241C= | |
| XR_938963.1:n.641+3241C= |