Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117675861C>T , CM000669.2:g.117675861C>T | GRCh38 |
| NC_000007.13:g.117315915C>T , CM000669.1:g.117315915C>T | GRCh37 |
| NC_000007.12:g.117103151C>T | NCBI36 |
| NG_016465.4:g.215078C>T , LRG_663:g.215078C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000600166.1:c.368+10297C>T |