Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55154764T>G , CM000681.2:g.55154764T>G | GRCh38 |
| NC_000019.9:g.55666132T>G , CM000681.1:g.55666132T>G | GRCh37 |
| NC_000019.8:g.60357944T>G | NCBI36 |
| NG_007866.2:g.7969A>C , LRG_432:g.7969A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344887.10:c.349A>C MANE Select | ENSP00000341838.5:p.Lys117Gln | |
| ENST00000665070.1:c.349A>C | ENSP00000499482.1:p.Lys117Gln | |
| ENST00000344887.9:c.349A>C | ENSP00000341838.5:p.Lys117Gln | |
| ENST00000585806.5:n.348A>C | ||
| ENST00000586669.5:n.357A>C | ||
| ENST00000587176.5:n.533A>C | ||
| ENST00000587871.1:c.968A>C | ||
| ENST00000588882.1:c.274A>C | ENSP00000466729.1:p.Lys92Gln | |
| ENST00000590463.1:n.521A>C | ||
| NM_000363.4:c.349A>C , LRG_432t1:c.349A>C | NP_000354.4:p.Lys117Gln | |
| NM_000363.5:c.349A>C MANE Select | NP_000354.4:p.Lys117Gln |