Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.43575535G= , CM000681.2:g.43575535G= | GRCh38 |
| NC_000019.9:g.44079687G= , CM000681.1:g.44079687G= | GRCh37 |
| NC_000019.8:g.48771527G= | NCBI36 |
| NG_033799.1:g.5044C= , LRG_784:g.5044C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006297.2:c.-77C= , LRG_784t1:c.-77C= | NP_006288.2:n.-77C= |
| ENST00000262887.9:c.-77C= | ENSP00000262887.4:n.-77C= |
| ENST00000543982.5:c.-77C= | ENSP00000443671.1:n.-77C= |
| ENST00000594374.1:c.170-14515C= | |
| ENST00000598165.5:c.73-533C= | ENSP00000470045.1:n.73-533C= |
| ENST00000599693.5:c.70+4830C= |