Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.21140575G= , CM000671.2:g.21140575G= | GRCh38 |
| NC_000009.11:g.21140574G= , CM000671.1:g.21140574G= | GRCh37 |
| NC_000009.10:g.21130574G= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000380229.3:c.*408C= | ENSP00000369578.2:n.*408C= |