Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.11292987G>C , CM000678.2:g.11292987G>C | GRCh38 |
| NC_000016.9:g.11386844G>C , CM000678.1:g.11386844G>C | GRCh37 |
| NC_000016.8:g.11294345G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649869.1:n.152+43209G>C | ||
| ENST00000572173.1:c.-515-2229G>C | ENSP00000461206.1:n.-515-2229G>C | |
| ENST00000573910.1:n.161-23465G>C | ||
| XR_933070.1:n.733+43209G>C | ||
| XR_933070.3:n.876+43209G>C |