dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.10368790G>A , CM000674.2:g.10368790G>A | GRCh38 |
| NC_000012.11:g.10521389G>A , CM000674.1:g.10521389G>A | GRCh37 |
| NC_000012.10:g.10412656G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_120430.1:n.265+4757G>A |