Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67942927G>C , CM000678.2:g.67942927G>C | GRCh38 |
| NC_000016.9:g.67976830G>C , CM000678.1:g.67976830G>C | GRCh37 |
| NC_000016.8:g.66534331G>C | NCBI36 |
| NG_009778.1:g.6186C>G | |
| NG_033098.1:g.30768C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264005.10:c.361C>G MANE Select | ENSP00000264005.5:p.Gln121Glu | |
| ENST00000264005.9:c.361C>G | ENSP00000264005.5:p.Gln121Glu | |
| ENST00000570369.5:c.89C>G | ||
| ENST00000570980.1:c.145C>G | ENSP00000464651.1:p.Gln49Glu | |
| ENST00000573538.5:c.4C>G | ENSP00000463220.1:p.Gln2Glu | |
| ENST00000575277.1:n.139C>G | ||
| ENST00000575467.5:c.*56C>G | ENSP00000460653.1:n.*56C>G | |
| NM_000229.1:c.361C>G | NP_000220.1:p.Gln121Glu | |
| NM_000229.2:c.361C>G MANE Select | NP_000220.1:p.Gln121Glu |