Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.47906043T>C , CM000674.2:g.47906043T>C | GRCh38 |
| NC_000012.11:g.48299826T>C , CM000674.1:g.48299826T>C | GRCh37 |
| NC_000012.10:g.46586093T>C | NCBI36 |
| NG_008731.1:g.3989A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000395324.6:c.-83-23269A>G | ENSP00000378734.2:n.-83-23269A>G |