Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87863536G>C , CM000672.2:g.87863536G>C | GRCh38 |
| NC_000010.10:g.89623293G>C , CM000672.1:g.89623293G>C | GRCh37 |
| NC_000010.9:g.89613273G>C | NCBI36 |
| NG_007466.2:g.5099G>C , LRG_311:g.5099G>C | |
| NG_033079.1:g.4902C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706954.1:c.-17+894G>C | ENSP00000516674.1:n.-17+894G>C | |
| ENST00000688308.1:c.-17+423G>C | ENSP00000508752.1:n.-17+423G>C | |
| ENST00000693560.1:c.-414G>C | ENSP00000509861.1:n.-414G>C | |
| ENST00000371953.7:c.-934G>C | ENSP00000361021.3:n.-934G>C | |
| ENST00000610634.1:c.-1036G>C | ENSP00000477517.1:n.-1036G>C | |
| NM_000314.5:c.-933G>C | NP_000305.3:n.-933G>C | |
| NM_000314.6:c.-933G>C | NP_000305.3:n.-933G>C | |
| NM_001304717.2:c.-414G>C | NP_001291646.2:n.-414G>C | |
| NM_001304718.1:c.-1638G>C | NP_001291647.1:n.-1638G>C |