Linked Data
ClinVar Variation Id:
2014501
ClinVar RCV Id:
RCV002861526
dbSNP Id:
rs2152144105
gnomAD v4:
16-68833420-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.68833420A>G , CM000678.2:g.68833420A>G | GRCh38 |
| NC_000016.9:g.68867323A>G , CM000678.1:g.68867323A>G | GRCh37 |
| NC_000016.8:g.67424824A>G | NCBI36 |
| NG_008021.1:g.101129A>G , LRG_301:g.101129A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261769.10:c.2570A>G MANE Select | ENSP00000261769.4:p.Gln857Arg | |
| ENST00000261769.9:c.2570A>G | ENSP00000261769.4:p.Gln857Arg | |
| ENST00000422392.6:c.2387A>G | ENSP00000414946.2:p.Gln796Arg | |
| ENST00000562118.1:n.788A>G | ||
| ENST00000562836.5:n.2641A>G | ||
| ENST00000566510.5:c.*1236A>G | ENSP00000458139.1:n.*1236A>G | |
| ENST00000566612.5:c.*810A>G | ENSP00000454782.1:n.*810A>G | |
| ENST00000611625.4:c.2633A>G | ENSP00000481063.1:p.Gln878Arg | |
| ENST00000612417.4:c.1854-771A>G | ENSP00000478360.1:n.1854-771A>G | |
| ENST00000621016.4:c.1866-783A>G | ENSP00000480664.1:n.1866-783A>G | |
| NM_004360.3:c.2570A>G , LRG_301t1:c.2570A>G | NP_004351.1:p.Gln857Arg | |
| XM_011523488.1:c.1835A>G | XP_011521790.1:p.Gln612Arg | |
| XM_011523489.1:c.1835A>G | XP_011521791.1:p.Gln612Arg | |
| NM_001317184.1:c.2387A>G | NP_001304113.1:p.Gln796Arg | |
| NM_001317185.1:c.1022A>G | NP_001304114.1:p.Gln341Arg | |
| NM_001317186.1:c.605A>G | NP_001304115.1:p.Gln202Arg | |
| NM_004360.4:c.2570A>G | NP_004351.1:p.Gln857Arg | |
| NM_004360.5:c.2570A>G MANE Select | NP_004351.1:p.Gln857Arg | |
| NM_001317184.2:c.2387A>G | NP_001304113.1:p.Gln796Arg | |
| NM_001317185.2:c.1022A>G | NP_001304114.1:p.Gln341Arg | |
| NM_001317186.2:c.605A>G | NP_001304115.1:p.Gln202Arg |