dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.176147850C>G , CM000664.2:g.176147850C>G | GRCh38 |
| NC_000002.11:g.177012578C>G , CM000664.1:g.177012578C>G | GRCh37 |
| NC_000002.10:g.176720824C>G | NCBI36 |
| NG_012080.1:g.1466C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000432796.2:c.-85+10851C>G | ENSP00000392615.2:n.-85+10851C>G | |
| XM_005246510.3:c.-181+10851C>G | XP_005246567.1:n.-181+10851C>G | |
| XM_006712477.2:c.-85+10851C>G | XP_006712540.1:n.-85+10851C>G |