Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.11292900A>G , CM000678.2:g.11292900A>G | GRCh38 |
| NC_000016.9:g.11386757A>G , CM000678.1:g.11386757A>G | GRCh37 |
| NC_000016.8:g.11294258A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649869.1:n.152+43122A>G | ||
| ENST00000572173.1:c.-515-2316A>G | ENSP00000461206.1:n.-515-2316A>G | |
| ENST00000573910.1:n.161-23552A>G | ||
| XR_933070.1:n.733+43122A>G | ||
| XR_933070.3:n.876+43122A>G |