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