Linked Data
dbSNP Id:
rs949318807
gnomAD v2:
8-128750609-A-G
gnomAD v3:
8-127738363-A-G
gnomAD v4:
8-127738363-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.127738363A>G , CM000670.2:g.127738363A>G | GRCh38 |
| NC_000008.10:g.128750609A>G , CM000670.1:g.128750609A>G | GRCh37 |
| NC_000008.9:g.128819791A>G | NCBI36 |
| NG_007161.1:g.7294A>G | |
| NG_007161.2:g.7930A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000707113.1:c.101A>G | ENSP00000516742.1:p.Gln34Arg | |
| ENST00000707114.1:c.101A>G | ENSP00000516743.1:p.Gln34Arg | |
| ENST00000707115.1:c.101A>G | ENSP00000516744.1:p.Gln34Arg | |
| ENST00000707116.1:c.101A>G | ENSP00000516745.1:p.Gln34Arg | |
| ENST00000517291.2:c.143A>G | ENSP00000429441.2:p.Gln48Arg | |
| ENST00000524013.2:c.143A>G | ENSP00000430235.2:p.Gln48Arg | |
| ENST00000621592.8:c.146A>G MANE Select | ENSP00000478887.2:p.Gln49Arg | |
| ENST00000651626.1:c.-200A>G | ENSP00000499182.1:n.-200A>G | |
| ENST00000652288.1:c.101A>G | ENSP00000499105.1:p.Gln34Arg | |
| ENST00000259523.10:c.101A>G | ENSP00000259523.6:p.Gln34Arg | |
| ENST00000377970.6:c.101A>G | ENSP00000367207.3:p.Gln34Arg | |
| ENST00000517291.1:c.143A>G | ENSP00000429441.1:p.Gln48Arg | |
| ENST00000520751.1:c.67A>G | ENSP00000430226.1:p.Ser23Gly | |
| ENST00000524013.1:c.143A>G | ENSP00000430235.1:p.Gln48Arg | |
| ENST00000613283.1:c.146A>G | ENSP00000479618.1:p.Gln49Arg | |
| ENST00000621592.5:c.146A>G | ENSP00000478887.1:p.Gln49Arg | |
| NM_002467.4:c.146A>G | NP_002458.2:p.Gln49Arg | |
| NM_001354870.1:c.143A>G | NP_001341799.1:p.Gln48Arg | |
| NM_002467.5:c.146A>G | NP_002458.2:p.Gln49Arg | |
| NM_002467.6:c.146A>G MANE Select | NP_002458.2:p.Gln49Arg |