Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.58749958T>G , CM000677.2:g.58749958T>G | GRCh38 |
| NC_000015.9:g.59042157T>G , CM000677.1:g.59042157T>G | GRCh37 |
| NC_000015.8:g.56829449T>G | NCBI36 |
| NG_033876.1:g.5021A>C | |
| NG_033876.2:g.4750A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260408.7:c.-424A>C | ENSP00000260408.3:n.-424A>C | |
| NM_001110.3:c.-424A>C | NP_001101.1:n.-424A>C | |
| NM_001320570.1:c.-424A>C | NP_001307499.1:n.-424A>C |