Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67491136C>T , CM000673.2:g.67491136C>T | GRCh38 |
| NC_000011.9:g.67258607C>T , CM000673.1:g.67258607C>T | GRCh37 |
| NC_000011.8:g.67015183C>T | NCBI36 |
| NG_008969.1:g.13103C>T , LRG_460:g.13103C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684657.1:c.*143C>T | ENSP00000507961.1:n.*143C>T |