Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.90104749T>C , CM000677.2:g.90104749T>C | GRCh38 |
| NC_000015.9:g.90647981T>C , CM000677.1:g.90647981T>C | GRCh37 |
| NC_000015.8:g.88448985T>C | NCBI36 |
| NG_023302.1:g.2728A>G , LRG_611:g.2728A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_932602.1:n.165+1297T>C | ||
| NR_149130.1:n.320+1297T>C |