Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.70049611C>T , CM000667.2:g.70049611C>T | GRCh38 |
| NC_000005.9:g.69345438C>T , CM000667.1:g.69345438C>T | GRCh37 |
| NC_000005.8:g.69381194C>T | NCBI36 |
| NG_008728.1:g.5089C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NM_017411.3:c.-75C>T | NP_059107.1:n.-75C>T | |
| NM_022875.2:c.-75C>T | NP_075013.1:n.-75C>T | |
| NM_022876.2:c.-75C>T | NP_075014.1:n.-75C>T | |
| NM_022877.2:c.-75C>T | NP_075015.1:n.-75C>T | |
| XR_948432.1:n.1054+61607C>T |