Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.50861367A>C , CM000681.2:g.50861367A>C | GRCh38 |
| NC_000019.9:g.51364623A>C , CM000681.1:g.51364623A>C | GRCh37 |
| NC_000019.8:g.56056435A>C | NCBI36 |
| NG_011653.1:g.11453A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| XR_935817.1:n.1324+2113A>C |