Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.1113690T>C , CM000666.2:g.1113690T>C | GRCh38 |
| NC_000004.11:g.1107478T>C , CM000666.1:g.1107478T>C | GRCh37 |
| NC_000004.10:g.1097478T>C | NCBI36 |
| NG_027812.1:g.4875A>G | |
| NG_027812.2:g.5105A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_134676.1:n.52T>C | |
| XM_011513442.1:c.-131A>G | XP_011511744.1:n.-131A>G |
| XM_011513443.1:c.-362A>G | XP_011511745.1:n.-362A>G |
| XM_017008040.1:c.-277A>G | XP_016863529.1:n.-277A>G |
| XR_925040.1:n.52T>C |