dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94945466A>G , CM000672.2:g.94945466A>G | GRCh38 |
| NC_000010.10:g.96705223A>G , CM000672.1:g.96705223A>G | GRCh37 |
| NC_000010.9:g.96695213A>G | NCBI36 |
| NG_008385.1:g.11809A>G | |
| NG_008385.2:g.12309A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260682.8:c.482-2313A>G MANE Select | ENSP00000260682.6:n.482-2313A>G | |
| ENST00000643112.1:c.482-2313A>G | ENSP00000496202.1:n.482-2313A>G | |
| ENST00000645207.1:n.635-2313A>G | ||
| ENST00000260682.6:c.482-2313A>G | ENSP00000260682.6:n.482-2313A>G | |
| ENST00000473496.1:n.253-2313A>G | ||
| NM_000771.3:c.482-2313A>G | NP_000762.2:n.482-2313A>G | |
| NM_000771.4:c.482-2313A>G MANE Select | NP_000762.2:n.482-2313A>G |