Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.21140546G>A , CM000671.2:g.21140546G>A | GRCh38 |
| NC_000009.11:g.21140545G>A , CM000671.1:g.21140545G>A | GRCh37 |
| NC_000009.10:g.21130545G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380229.3:c.*437C>T | ENSP00000369578.2:n.*437C>T |