Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.33979632C>T , CM000679.2:g.33979632C>T | GRCh38 |
| NC_000017.10:g.32306651C>T , CM000679.1:g.32306651C>T | GRCh37 |
| NC_000017.9:g.29330764C>T | NCBI36 |
| NG_029763.1:g.182175G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359872.6:c.555+176346G>A | ENSP00000352934.6:n.555+176346G>A | |
| NM_001094.4:c.555+176346G>A | NP_001085.2:n.555+176346G>A | |
| XR_001752840.1:n.404+7513G>A | ||
| NM_001094.5:c.555+176346G>A | NP_001085.2:n.555+176346G>A |