Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.43389728C>T , CM000681.2:g.43389728C>T | GRCh38 |
| NC_000019.9:g.43893880C>T , CM000681.1:g.43893880C>T | GRCh37 |
| NC_000019.8:g.48585720C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NM_031451.4:c.-443+999C>T | NP_113639.4:n.-443+999C>T | |
| NM_031451.5:c.-443+999C>T | NP_113639.4:n.-443+999C>T |