Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2171846G= , CM000673.2:g.2171846G= | GRCh38 |
| NC_000011.9:g.2193076G= , CM000673.1:g.2193076G= | GRCh37 |
| NC_000011.8:g.2149652G= | NCBI36 |
| NG_008128.1:g.4960C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000352909.7:c.-60C= | ENSP00000325951.3:n.-60C= | |
| XM_011520335.1:c.-60C= | XP_011518637.1:n.-60C= | |
| XM_011520335.2:c.-60C= | XP_011518637.1:n.-60C= |