Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.226870554C= , CM000663.2:g.226870554C= | GRCh38 |
| NC_000001.10:g.227058255C= , CM000663.1:g.227058255C= | GRCh37 |
| NC_000001.9:g.225124878C= | NCBI36 |
| NG_007381.1:g.4983C= | |
| NG_007381.2:g.5371C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366779.6:c.-350+49C= | ENSP00000355741.2:n.-350+49C= | |
| ENST00000524196.6:c.-350+49C= | ENSP00000429036.2:n.-350+49C= | |
| ENST00000676884.1:c.-350+49C= | ENSP00000503200.1:n.-350+49C= | |
| ENST00000676888.1:c.-350+49C= | ENSP00000504483.1:n.-350+49C= | |
| ENST00000678835.1:c.-445C= | ENSP00000504343.1:n.-445C= | |
| ENST00000524196.5:c.-350+49C= | ENSP00000429036.1:n.-350+49C= |