Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.21140528G>C , CM000671.2:g.21140528G>C | GRCh38 |
| NC_000009.11:g.21140527G>C , CM000671.1:g.21140527G>C | GRCh37 |
| NC_000009.10:g.21130527G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380229.3:c.*455C>G | ENSP00000369578.2:n.*455C>G |