Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.44651785C>G , CM000682.2:g.44651785C>G | GRCh38 |
| NC_000020.10:g.43280426C>G , CM000682.1:g.43280426C>G | GRCh37 |
| NC_000020.9:g.42713840C>G | NCBI36 |
| NG_007385.1:g.4951G>C , LRG_16:g.4951G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000536076.2:c.-121+117G>C | ENSP00000512234.1:n.-121+117G>C | |
| ENST00000696039.1:n.321+117G>C | ||
| ENST00000696062.1:c.96+315G>C | ENSP00000512365.1:n.96+315G>C | |
| ENST00000696064.1:c.-118+117G>C | ENSP00000512367.1:n.-118+117G>C | |
| ENST00000696065.1:c.-121+117G>C | ENSP00000512368.1:n.-121+117G>C | |
| ENST00000535573.1:n.332+117G>C | ||
| ENST00000536076.1:n.213+117G>C | ||
| XM_011528479.1:c.-257+117G>C | XP_011526781.1:n.-257+117G>C |