Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.112836810G>T , CM000664.2:g.112836810G>T | GRCh38 |
| NC_000002.11:g.113594387G>T , CM000664.1:g.113594387G>T | GRCh37 |
| NC_000002.10:g.113310858G>T | NCBI36 |
| NG_008851.1:g.4970C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000263341.6:c.-118C>A | ENSP00000263341.2:n.-118C>A |
| ENST00000418817.5:c.-146C>A | ENSP00000407219.1:n.-146C>A |
| XM_017003988.2:c.-149C>A | XP_016859477.1:n.-149C>A |