Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.31583847G>A , CM000664.2:g.31583847G>A | GRCh38 |
| NC_000002.11:g.31808916G>A , CM000664.1:g.31808916G>A | GRCh37 |
| NC_000002.10:g.31662420G>A | NCBI36 |
| NG_008365.1:g.2125C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011533070.1:c.27-50081C>T | XP_011531372.1:n.27-50081C>T | |
| XM_011533071.1:c.27-50081C>T | XP_011531373.1:n.27-50081C>T | |
| XM_011533072.1:c.27-50081C>T | XP_011531374.1:n.27-50081C>T | |
| XM_011533072.2:c.27-50081C>T | XP_011531374.1:n.27-50081C>T |