Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.55283201T>C , CM000668.2:g.55283201T>C | GRCh38 |
| NC_000006.11:g.55147999T>C , CM000668.1:g.55147999T>C | GRCh37 |
| NC_000006.10:g.55255958T>C | NCBI36 |
| NG_012447.1:g.113929T>C | |
| NG_012447.2:g.181742T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_017010798.1:c.1331+751T>C | XP_016866287.1:n.1331+751T>C |