Linked Data
ClinVar Variation Id:
140840
dbSNP Id:
rs587781311
ExAC:
16:68863597 G / A
gnomAD v2:
16-68863597-G-A
gnomAD v3:
16-68829694-G-A
gnomAD v4:
16-68829694-G-A
ERepo:
CA293940/MONDO:0007648/007
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.68829694G>A , CM000678.2:g.68829694G>A | GRCh38 |
| NC_000016.9:g.68863597G>A , CM000678.1:g.68863597G>A | GRCh37 |
| NC_000016.8:g.67421098G>A | NCBI36 |
| NG_008021.1:g.97403G>A , LRG_301:g.97403G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261769.10:c.2336G>A MANE Select | ENSP00000261769.4:p.Arg779Gln | |
| ENST00000261769.9:c.2336G>A | ENSP00000261769.4:p.Arg779Gln | |
| ENST00000422392.6:c.2153G>A | ENSP00000414946.2:p.Arg718Gln | |
| ENST00000562118.1:n.554G>A | ||
| ENST00000562836.5:n.2407G>A | ||
| ENST00000566510.5:c.*1002G>A | ENSP00000458139.1:n.*1002G>A | |
| ENST00000566612.5:c.*576G>A | ENSP00000454782.1:n.*576G>A | |
| ENST00000611625.4:c.2399G>A | ENSP00000481063.1:p.Arg800Gln | |
| ENST00000612417.4:c.1853+3140G>A | ENSP00000478360.1:n.1853+3140G>A | |
| ENST00000621016.4:c.1866-4509G>A | ENSP00000480664.1:n.1866-4509G>A | |
| NM_004360.3:c.2336G>A , LRG_301t1:c.2336G>A | NP_004351.1:p.Arg779Gln | |
| XM_011523488.1:c.1601G>A | XP_011521790.1:p.Arg534Gln | |
| XM_011523489.1:c.1601G>A | XP_011521791.1:p.Arg534Gln | |
| NM_001317184.1:c.2153G>A | NP_001304113.1:p.Arg718Gln | |
| NM_001317185.1:c.788G>A | NP_001304114.1:p.Arg263Gln | |
| NM_001317186.1:c.371G>A | NP_001304115.1:p.Arg124Gln | |
| NM_004360.4:c.2336G>A | NP_004351.1:p.Arg779Gln | |
| NM_004360.5:c.2336G>A MANE Select | NP_004351.1:p.Arg779Gln | |
| NM_001317184.2:c.2153G>A | NP_001304113.1:p.Arg718Gln | |
| NM_001317185.2:c.788G>A | NP_001304114.1:p.Arg263Gln | |
| NM_001317186.2:c.371G>A | NP_001304115.1:p.Arg124Gln |