Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.12790428C>G , CM000686.2:g.12790428C>G | GRCh38 |
| NC_000024.9:g.14902361C>G , CM000686.1:g.14902361C>G | GRCh37 |
| NC_000024.8:g.13411755C>G | NCBI36 |
| NG_008311.1:g.94202C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651177.1:c.3583C>G | ENSP00000498372.1:p.Gln1195Glu | |
| ENST00000338981.7:c.3583C>G MANE Select | ENSP00000342812.3:p.Gln1195Glu | |
| ENST00000426564.6:n.3595C>G | ||
| NM_004654.3:c.3583C>G | NP_004645.2:p.Gln1195Glu | |
| XM_011531469.1:c.3583C>G | XP_011529771.1:p.Gln1195Glu | |
| XM_011531470.1:c.3349C>G | XP_011529772.1:p.Gln1117Glu | |
| XM_017030078.2:c.3598C>G | XP_016885567.1:p.Gln1200Glu | |
| NM_004654.4:c.3583C>G MANE Select | NP_004645.2:p.Gln1195Glu |