dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.23528117C>G , CM000667.2:g.23528117C>G | GRCh38 |
| NC_000005.9:g.23528226C>G , CM000667.1:g.23528226C>G | GRCh37 |
| NC_000005.8:g.23563983C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296682.3:c.*344C>G | ENSP00000296682.3:n.*344C>G | |
| NM_020227.2:c.*344C>G | NP_064612.2:n.*344C>G | |
| NM_020227.3:c.*344C>G | NP_064612.2:n.*344C>G |