Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.11491429C>G , CM000670.2:g.11491429C>G | GRCh38 |
| NC_000008.10:g.11348938C>G , CM000670.1:g.11348938C>G | GRCh37 |
| NC_000008.9:g.11386347C>G | NCBI36 |
| NG_023543.1:g.2418C>G | |
| NG_023543.2:g.2418C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696154.2:n.274+4262C>G | ||
| ENST00000696154.1:c.-91+4262C>G | ENSP00000512445.1:n.-91+4262C>G | |
| ENST00000645242.1:c.-91+4262C>G | ENSP00000494690.1:n.-91+4262C>G |