Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.168486454C>T , CM000667.2:g.168486454C>T | GRCh38 |
| NC_000005.9:g.167913459C>T , CM000667.1:g.167913459C>T | GRCh37 |
| NC_000005.8:g.167846037C>T | NCBI36 |
| NG_041809.1:g.4997C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000231572.7:c.-45C>T | ENSP00000231572.3:n.-45C>T |
| ENST00000524082.5:n.4C>T |