Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.73795371A>C , CM000678.2:g.73795371A>C | GRCh38 |
| NC_000016.9:g.73829270A>C , CM000678.1:g.73829270A>C | GRCh37 |
| NC_000016.8:g.72386771A>C | NCBI36 |
| NG_013211.2:g.101561T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001386735.1:c.-1125+96280T>G | NP_001373664.1:n.-1125+96280T>G |
| ENST00000641018.1:n.100+96280T>G | |
| ENST00000641206.2:c.-1608+96280T>G | ENSP00000493252.1:n.-1608+96280T>G |
| ENST00000642085.1:n.102+96280T>G | |
| XM_024450275.1:c.-555+88195T>G | XP_024306043.1:n.-555+88195T>G |
| XR_933730.1:n.294+14538T>G |