Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.15640739G>C , CM000681.2:g.15640739G>C | GRCh38 |
| NC_000019.9:g.15751549G>C , CM000681.1:g.15751549G>C | GRCh37 |
| NC_000019.8:g.15612549G>C | NCBI36 |
| NG_007964.1:g.4843G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000620621.4:c.344-6313G>C | ENSP00000478605.1:n.344-6313G>C |