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