dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.17309480G>A , CM000681.2:g.17309480G>A | GRCh38 |
| NC_000019.9:g.17420289G>A , CM000681.1:g.17420289G>A | GRCh37 |
| NC_000019.8:g.17281289G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000593489.1:c.40+687C>T | ENSP00000468883.1:n.40+687C>T |