dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.21196677C>G , CM000674.2:g.21196677C>G | GRCh38 |
| NC_000012.11:g.21349611C>G , CM000674.1:g.21349611C>G | GRCh37 |
| NC_000012.10:g.21240878C>G | NCBI36 |
| NG_011745.1:g.70484C>G , LRG_1022:g.70484C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256958.3:c.728-269C>G MANE Select | ENSP00000256958.2:n.728-269C>G | |
| ENST00000256958.2:c.728-269C>G | ENSP00000256958.2:n.728-269C>G | |
| NM_006446.4:c.728-269C>G , LRG_1022t1:c.728-269C>G | NP_006437.3:n.728-269C>G | |
| NM_006446.5:c.728-269C>G MANE Select | NP_006437.3:n.728-269C>G |