dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.79823470A>T , CM000668.2:g.79823470A>T | GRCh38 |
| NC_000006.11:g.80533187A>T , CM000668.1:g.80533187A>T | GRCh37 |
| NC_000006.10:g.80589906A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NM_001243308.1:c.59-16129T>A | NP_001230237.1:n.59-16129T>A | |
| XM_011536236.1:c.17-16129T>A | XP_011534538.1:n.17-16129T>A | |
| XM_011536237.1:c.17-16129T>A | XP_011534539.1:n.17-16129T>A |