Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.111070100A>G , CM000667.2:g.111070100A>G | GRCh38 |
| NC_000005.9:g.110405798A>G , CM000667.1:g.110405798A>G | GRCh37 |
| NC_000005.8:g.110433697A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000420978.6:c.-1384A>G | ENSP00000399099.2:n.-1384A>G | |
| NR_045089.1:n.21A>G | ||
| NR_045089.2:n.39A>G |