dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.42522676C>G , CM000680.2:g.42522676C>G | GRCh38 |
| NC_000018.9:g.40102641C>G , CM000680.1:g.40102641C>G | GRCh37 |
| NC_000018.8:g.38356639C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_046174.2:n.873-52117C>G | ||
| NR_046454.1:n.703+6507C>G |