Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.207454092G= , CM000663.2:g.207454092G= | GRCh38 |
| NC_000001.10:g.207627437G= , CM000663.1:g.207627437G= | GRCh37 |
| NC_000001.9:g.205694060G= | NCBI36 |
| NG_013006.1:g.4793G= , LRG_348:g.4793G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699640.1:c.-385+997G= | ENSP00000514493.1:n.-385+997G= |