Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.207454297A= , CM000663.2:g.207454297A= | GRCh38 |
| NC_000001.10:g.207627642A= , CM000663.1:g.207627642A= | GRCh37 |
| NC_000001.9:g.205694265A= | NCBI36 |
| NG_013006.1:g.4998A= , LRG_348:g.4998A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699640.1:c.-385+1202A= | ENSP00000514493.1:n.-385+1202A= | |
| ENST00000367057.7:c.-122A= | ENSP00000356024.3:n.-122A= | |
| ENST00000367058.7:c.-122A= | ENSP00000356025.3:n.-122A= | |
| ENST00000367059.3:c.-122A= | ENSP00000356026.3:n.-122A= |