Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.2470797C>G , CM000682.2:g.2470797C>G | GRCh38 |
| NC_000020.10:g.2451443C>G , CM000682.1:g.2451443C>G | GRCh37 |
| NC_000020.9:g.2399443C>G | NCBI36 |
| NG_042057.1:g.5057G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000339610.10:c.-107G>C | ENSP00000342305.7:n.-107G>C | |
| ENST00000381342.6:c.-107G>C | ENSP00000370746.2:n.-107G>C | |
| ENST00000438552.6:c.-107G>C | ENSP00000412566.2:n.-107G>C | |
| ENST00000461548.1:c.305-3039G>C | ENSP00000456213.1:n.305-3039G>C | |
| NM_003091.3:c.-107G>C | NP_003082.1:n.-107G>C | |
| NM_198216.1:c.-107G>C | NP_937859.1:n.-107G>C |