Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218270425T= , CM000664.2:g.218270425T= | GRCh38 |
| NC_000002.11:g.219135148T= , CM000664.1:g.219135148T= | GRCh37 |
| NC_000002.10:g.218843392T= | NCBI36 |
| NG_017060.1:g.5034T= | |
| NG_033036.1:g.4746A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000691799.1:n.70+705T= | ||
| ENST00000248451.7:c.-111T= | ENSP00000248451.3:n.-111T= | |
| NM_001077399.2:c.-111T= | NP_001070867.1:n.-111T= | |
| NM_015488.4:c.-111T= | NP_056303.3:n.-111T= |