Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.52803889A>G , CM000668.2:g.52803889A>G | GRCh38 |
| NC_000006.11:g.52668687A>G , CM000668.1:g.52668687A>G | GRCh37 |
| NC_000006.10:g.52776646A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001319059.1:c.-281T>C | NP_001305988.1:n.-281T>C |
| NM_145740.4:c.-135T>C | NP_665683.1:n.-135T>C |
| ENST00000334575.5:c.-135T>C | ENSP00000335620.5:n.-135T>C |