Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128745323C>T , CM000667.2:g.128745323C>T | GRCh38 |
| NC_000005.9:g.128081016C>T , CM000667.1:g.128081016C>T | GRCh37 |
| NC_000005.8:g.128108915C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000508645.5:c.-269-100257C>T | ENSP00000421759.1:n.-269-100257C>T |
| XR_001742460.1:n.1180+16748C>T | |
| XR_948770.1:n.397+16748C>T |