Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.48681820T= , CM000685.2:g.48681820T= | GRCh38 |
| NC_000023.10:g.48540209T= , CM000685.1:g.48540209T= | GRCh37 |
| NC_000023.9:g.48425153T= | NCBI36 |
| NG_007877.1:g.3024T= , LRG_125:g.3024T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698625.1:c.-34-2000T= | ENSP00000513844.1:n.-34-2000T= | |
| ENST00000450772.5:c.-130-1448T= | ENSP00000410537.1:n.-130-1448T= |