Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.74716498T>C , CM000678.2:g.74716498T>C | GRCh38 |
| NC_000016.9:g.74750396T>C , CM000678.1:g.74750396T>C | GRCh37 |
| NC_000016.8:g.73307897T>C | NCBI36 |
| NG_017070.1:g.63334A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_024306.5:c.888A>G MANE Select | NP_077282.3:p.Val296= |
| ENST00000219368.8:c.888A>G MANE Select | ENSP00000219368.3:p.Val296= |
| NM_024306.4:c.888A>G | NP_077282.3:p.Val296= |
| ENST00000219368.7:c.888A>G | ENSP00000219368.3:p.Val296= |
| ENST00000562145.1:n.609A>G | |
| ENST00000567683.5:c.*167A>G | ENSP00000455126.1:n.*167A>G |
| XM_011523317.3:c.*1752A>G | XP_011521619.1:n.*1752A>G |
| XM_011523319.1:c.648A>G | XP_011521621.1:p.Val216= |
| XM_011523319.2:c.648A>G | XP_011521621.1:p.Val216= |