Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.55233641G= , CM000667.2:g.55233641G= | GRCh38 |
| NC_000005.9:g.54529469G= , CM000667.1:g.54529469G= | GRCh37 |
| NC_000005.8:g.54565226G= | NCBI36 |
| NG_034201.1:g.5077C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282572.4:c.-118C= | ENSP00000282572.4:n.-118C= | |
| NM_021147.4:c.-118C= | NP_066970.3:n.-118C= | |
| NR_125346.1:n.77C= | ||
| NR_125347.1:n.77C= |