dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.37964804G>A , CM000669.2:g.37964804G>A | GRCh38 |
| NC_000007.13:g.38004406G>A , CM000669.1:g.38004406G>A | GRCh37 |
| NC_000007.12:g.37970931G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000447200.2:c.-52-38030C>T | ENSP00000402262.2:n.-52-38030C>T |