Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.19713195A>C , CM000674.2:g.19713195A>C | GRCh38 |
| NC_000012.11:g.19866129A>C , CM000674.1:g.19866129A>C | GRCh37 |
| NC_000012.10:g.19757396A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000512223.6:c.339-7438A>C | ENSP00000445587.1:n.339-7438A>C |