Linked Data
ClinVar Variation Id:
1057481
dbSNP Id:
rs748170760
ExAC:
5:179250864 A / G
gnomAD v2:
5-179250864-A-G
gnomAD v3:
5-179823864-A-G
gnomAD v4:
5-179823864-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.179823864A>G , CM000667.2:g.179823864A>G | GRCh38 |
| NC_000005.9:g.179250864A>G , CM000667.1:g.179250864A>G | GRCh37 |
| NC_000005.8:g.179183470A>G | NCBI36 |
| NG_011342.1:g.22477A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389805.9:c.308A>G MANE Select | ENSP00000374455.4:p.Lys103Arg | |
| ENST00000360718.5:c.56A>G | ENSP00000353944.5:p.Lys19Arg | |
| ENST00000389805.8:c.308A>G | ENSP00000374455.4:p.Lys103Arg | |
| ENST00000422245.5:c.56A>G | ENSP00000394534.1:p.Lys19Arg | |
| ENST00000453046.5:c.*243A>G | ENSP00000405061.1:n.*243A>G | |
| ENST00000464493.5:n.203A>G | ||
| ENST00000466342.1:n.7A>G | ||
| ENST00000481335.5:n.458A>G | ||
| ENST00000485412.1:n.300A>G | ||
| ENST00000504627.1:c.377A>G | ENSP00000425957.1:p.Lys126Arg | |
| ENST00000508284.5:c.*30A>G | ENSP00000424195.1:n.*30A>G | |
| ENST00000510187.5:c.308A>G | ENSP00000424477.1:p.Lys103Arg | |
| ENST00000514093.5:c.56A>G | ENSP00000427308.1:p.Lys19Arg | |
| NM_001142298.1:c.56A>G | NP_001135770.1:p.Lys19Arg | |
| NM_001142299.1:c.56A>G | NP_001135771.1:p.Lys19Arg | |
| NM_003900.4:c.308A>G | NP_003891.1:p.Lys103Arg | |
| XM_017010010.1:c.56A>G | XP_016865499.1:p.Lys19Arg | |
| NM_003900.5:c.308A>G MANE Select | NP_003891.1:p.Lys103Arg | |
| NM_001142298.2:c.56A>G | NP_001135770.1:p.Lys19Arg | |
| NM_001142299.2:c.56A>G | NP_001135771.1:p.Lys19Arg |