dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.44457063A>T , CM000668.2:g.44457063A>T | GRCh38 |
| NC_000006.11:g.44424800A>T , CM000668.1:g.44424800A>T | GRCh37 |
| NC_000006.10:g.44532778A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NM_001318876.2:c.970-4257A>T | NP_001305805.1:n.970-4257A>T |