Linked Data
ClinVar Variation Id:
234284
dbSNP Id:
rs759380419
ExAC:
16:68863635 A / G
gnomAD v2:
16-68863635-A-G
gnomAD v4:
16-68829732-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.68829732A>G , CM000678.2:g.68829732A>G | GRCh38 |
| NC_000016.9:g.68863635A>G , CM000678.1:g.68863635A>G | GRCh37 |
| NC_000016.8:g.67421136A>G | NCBI36 |
| NG_008021.1:g.97441A>G , LRG_301:g.97441A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261769.10:c.2374A>G MANE Select | ENSP00000261769.4:p.Met792Val | |
| ENST00000261769.9:c.2374A>G | ENSP00000261769.4:p.Met792Val | |
| ENST00000422392.6:c.2191A>G | ENSP00000414946.2:p.Met731Val | |
| ENST00000562118.1:n.592A>G | ||
| ENST00000562836.5:n.2445A>G | ||
| ENST00000566510.5:c.*1040A>G | ENSP00000458139.1:n.*1040A>G | |
| ENST00000566612.5:c.*614A>G | ENSP00000454782.1:n.*614A>G | |
| ENST00000611625.4:c.2437A>G | ENSP00000481063.1:p.Met813Val | |
| ENST00000612417.4:c.1853+3178A>G | ENSP00000478360.1:n.1853+3178A>G | |
| ENST00000621016.4:c.1866-4471A>G | ENSP00000480664.1:n.1866-4471A>G | |
| NM_004360.3:c.2374A>G , LRG_301t1:c.2374A>G | NP_004351.1:p.Met792Val | |
| XM_011523488.1:c.1639A>G | XP_011521790.1:p.Met547Val | |
| XM_011523489.1:c.1639A>G | XP_011521791.1:p.Met547Val | |
| NM_001317184.1:c.2191A>G | NP_001304113.1:p.Met731Val | |
| NM_001317185.1:c.826A>G | NP_001304114.1:p.Met276Val | |
| NM_001317186.1:c.409A>G | NP_001304115.1:p.Met137Val | |
| NM_004360.4:c.2374A>G | NP_004351.1:p.Met792Val | |
| NM_004360.5:c.2374A>G MANE Select | NP_004351.1:p.Met792Val | |
| NM_001317184.2:c.2191A>G | NP_001304113.1:p.Met731Val | |
| NM_001317185.2:c.826A>G | NP_001304114.1:p.Met276Val | |
| NM_001317186.2:c.409A>G | NP_001304115.1:p.Met137Val |