dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.20577481C>G , CM000686.2:g.20577481C>G | GRCh38 |
| NC_000024.9:g.22739367C>G , CM000686.1:g.22739367C>G | GRCh37 |
| NC_000024.8:g.21148755C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361365.7:c.16+1594C>G MANE Select | ENSP00000354722.2:n.16+1594C>G | |
| ENST00000361365.6:c.16+1594C>G | ENSP00000354722.2:n.16+1594C>G | |
| ENST00000382772.3:c.16+1594C>G | ENSP00000372222.3:n.16+1594C>G | |
| ENST00000465253.1:n.110+1594C>G | ||
| NM_001278612.1:c.16+1594C>G | NP_001265541.1:n.16+1594C>G | |
| NM_004681.3:c.16+1594C>G | NP_004672.2:n.16+1594C>G | |
| NM_004681.4:c.16+1594C>G MANE Select | NP_004672.2:n.16+1594C>G | |
| NM_001278612.2:c.16+1594C>G | NP_001265541.1:n.16+1594C>G |