Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94989025C>G , CM000672.2:g.94989025C>G | GRCh38 |
| NC_000010.10:g.96748782C>G , CM000672.1:g.96748782C>G | GRCh37 |
| NC_000010.9:g.96738772C>G | NCBI36 |
| NG_008385.1:g.55368C>G | |
| NG_008385.2:g.55868C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000260682.8:c.1470C>G MANE Select | ENSP00000260682.6:p.Val490= | |
| ENST00000643112.1:c.*479C>G | ENSP00000496202.1:n.*479C>G | |
| ENST00000260682.6:c.1470C>G | ENSP00000260682.6:p.Val490= | |
| NM_000771.3:c.1470C>G | NP_000762.2:p.Val490= | |
| NM_000771.4:c.1470C>G MANE Select | NP_000762.2:p.Val490= |