dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.48950462C>G , CM000664.2:g.48950462C>G | GRCh38 |
| NC_000002.11:g.49177601C>G , CM000664.1:g.49177601C>G | GRCh37 |
| NC_000002.10:g.49031105C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011532737.1:c.957-5553G>C | XP_011531039.1:n.957-5553G>C | |
| XM_011532738.1:c.956+18236G>C | XP_011531040.1:n.956+18236G>C | |
| XM_011532739.1:c.956+18236G>C | XP_011531041.1:n.956+18236G>C |