Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.33448805C>G , CM000679.2:g.33448805C>G | GRCh38 |
| NC_000017.10:g.31775823C>G , CM000679.1:g.31775823C>G | GRCh37 |
| NC_000017.9:g.28799936C>G | NCBI36 |
| NG_029763.1:g.713003G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000359872.6:c.556-336738G>C | ENSP00000352934.6:n.556-336738G>C | |
| NM_001094.4:c.556-336738G>C | NP_001085.2:n.556-336738G>C | |
| NM_001094.5:c.556-336738G>C | NP_001085.2:n.556-336738G>C |