Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47269433T= , CM000673.2:g.47269433T= | GRCh38 |
| NC_000011.9:g.47290984T= , CM000673.1:g.47290984T= | GRCh37 |
| NC_000011.8:g.47247560T= | NCBI36 |
| NG_029462.1:g.5058T= | |
| NG_030392.1:g.26134T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001376595.1:c.-300T= | NP_001363524.1:n.-300T= |
| NM_001376641.1:c.-300T= | NP_001363570.1:n.-300T= |
| NM_001376651.1:c.-89+150T= | NP_001363580.1:n.-89+150T= |
| NM_130470.2:c.-300T= | NP_569826.2:n.-300T= |
| NM_130470.3:c.-300T= | NP_569826.2:n.-300T= |
| ENST00000342922.8:c.-300T= | ENSP00000343902.4:n.-300T= |
| ENST00000453571.5:c.-89+150T= | ENSP00000388255.1:n.-89+150T= |
| XM_011520431.1:c.-300T= | XP_011518733.1:n.-300T= |