dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.223072020C>G , CM000664.2:g.223072020C>G | GRCh38 |
| NC_000002.11:g.223936738C>G , CM000664.1:g.223936738C>G | GRCh37 |
| NC_000002.10:g.223644982C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000488477.2:n.189+11317C>G |