Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2444676A>C , CM000673.2:g.2444676A>C | GRCh38 |
| NC_000011.9:g.2465906A>C , CM000673.1:g.2465906A>C | GRCh37 |
| NC_000011.8:g.2422482A>C | NCBI36 |
| NG_008935.1:g.4686A>C , LRG_287:g.4686A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.-10A>C | ENSP00000434560.2:n.-10A>C |