Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.105855203G>A , CM000676.2:g.105855203G>A | GRCh38 |
| NC_000014.7:g.105392353G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000390559.6:c.681C>T | ENSP00000375001.2:p.Ile227= |
| ENST00000637539.2:c.681C>T | ENSP00000490253.1:p.Ile227= |