dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.116576975T>A , CM000669.2:g.116576975T>A | GRCh38 |
| NC_000007.13:g.116217029T>A , CM000669.1:g.116217029T>A | GRCh37 |
| NC_000007.12:g.116004265T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_120506.1:n.367-3231A>T | ||
| NR_120506.2:n.204-3231A>T | ||
| NR_165032.1:n.391-5745A>T | ||
| NR_165033.1:n.391-3231A>T |