Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1816191G>A , CM000667.2:g.1816191G>A | GRCh38 |
| NC_000005.9:g.1816305G>A , CM000667.1:g.1816305G>A | GRCh37 |
| NC_000005.8:g.1869305G>A | NCBI36 |
| NG_013354.1:g.19810G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000274137.9:c.*275G>A | ENSP00000274137.5:n.*275G>A |