Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.47908762C>A , CM000674.2:g.47908762C>A | GRCh38 |
| NC_000012.11:g.48302545C>A , CM000674.1:g.48302545C>A | GRCh37 |
| NC_000012.10:g.46588812C>A | NCBI36 |
| NG_008731.1:g.1270G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000395324.6:c.-83-25988G>T | ENSP00000378734.2:n.-83-25988G>T |