Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.47908638C>G , CM000674.2:g.47908638C>G | GRCh38 |
| NC_000012.11:g.48302421C>G , CM000674.1:g.48302421C>G | GRCh37 |
| NC_000012.10:g.46588688C>G | NCBI36 |
| NG_008731.1:g.1394G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395324.6:c.-83-25864G>C | ENSP00000378734.2:n.-83-25864G>C |