Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.43337733G>C , CM000663.2:g.43337733G>C | GRCh38 |
| NC_000001.10:g.43803404G>C , CM000663.1:g.43803404G>C | GRCh37 |
| NC_000001.9:g.43575991G>C | NCBI36 |
| NG_007525.1:g.4930G>C , LRG_510:g.4930G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011541478.1:c.-116G>C | XP_011539780.1:n.-116G>C | |
| XM_017001320.1:c.-116G>C | XP_016856809.1:n.-116G>C |