Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.1762036C= , CM000679.2:g.1762036C= | GRCh38 |
| NC_000017.10:g.1665330C= , CM000679.1:g.1665330C= | GRCh37 |
| NC_000017.9:g.1612080C= | NCBI36 |
| NG_028180.1:g.5072C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001329904.1:c.-555C= | NP_001316833.1:n.-555C= |
| NM_002615.5:c.-86C= | NP_002606.3:n.-86C= |
| NM_002615.6:c.-86C= | NP_002606.3:n.-86C= |
| ENST00000254722.8:c.-86C= | ENSP00000254722.4:n.-86C= |
| ENST00000571360.5:c.-86C= | ENSP00000461660.1:n.-86C= |