Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.87993231A>C , CM000676.2:g.87993231A>C | GRCh38 |
| NC_000014.8:g.88459575A>C , CM000676.1:g.88459575A>C | GRCh37 |
| NC_000014.7:g.87529328A>C | NCBI36 |
| NG_011853.2:g.5333T>G | |
| NG_011853.3:g.5333T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000153.3:c.-67T>G | NP_000144.2:n.-67T>G |
| NM_001201401.1:c.-67T>G | NP_001188330.1:n.-67T>G |
| NM_001201402.1:c.117+152T>G | NP_001188331.1:n.117+152T>G |
| NM_001201402.2:c.117+152T>G | NP_001188331.1:n.117+152T>G |
| ENST00000261304.6:c.-67T>G | ENSP00000261304.2:n.-67T>G |
| ENST00000393569.6:c.117+152T>G | ENSP00000377199.2:n.117+152T>G |