Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.48681638C= , CM000685.2:g.48681638C= | GRCh38 |
| NC_000023.10:g.48540027C= , CM000685.1:g.48540027C= | GRCh37 |
| NC_000023.9:g.48424971C= | NCBI36 |
| NG_007877.1:g.2842C= , LRG_125:g.2842C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698625.1:c.-34-2182C= | ENSP00000513844.1:n.-34-2182C= | |
| ENST00000450772.5:c.-130-1630C= | ENSP00000410537.1:n.-130-1630C= |