Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.37256206T>C , CM000681.2:g.37256206T>C | GRCh38 |
| NC_000019.9:g.37747108T>C , CM000681.1:g.37747108T>C | GRCh37 |
| NC_000019.8:g.42438948T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_110718.1:n.383-193T>C | |
| NR_110719.1:n.382+224T>C | |
| NR_110720.1:n.383+224T>C | |
| NR_110720.2:n.356+224T>C |