dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.52607274T>A , CM000678.2:g.52607274T>A | GRCh38 |
| NC_000016.9:g.52641186T>A , CM000678.1:g.52641186T>A | GRCh37 |
| NC_000016.8:g.51198687T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_933575.1:n.221T>A | ||
| XR_933577.1:n.221T>A | ||
| XR_933579.1:n.99+121T>A |