Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.33979421A>C , CM000679.2:g.33979421A>C | GRCh38 |
| NC_000017.10:g.32306440A>C , CM000679.1:g.32306440A>C | GRCh37 |
| NC_000017.9:g.29330553A>C | NCBI36 |
| NG_029763.1:g.182386T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359872.6:c.555+176557T>G | ENSP00000352934.6:n.555+176557T>G | |
| NM_001094.4:c.555+176557T>G | NP_001085.2:n.555+176557T>G | |
| XR_001752840.1:n.404+7724T>G | ||
| NM_001094.5:c.555+176557T>G | NP_001085.2:n.555+176557T>G |