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