Linked Data
ClinVar Variation Id:
207551
dbSNP Id:
rs148064565
ExAC:
11:6638977 T / C
gnomAD v2:
11-6638977-T-C
gnomAD v3:
11-6617746-T-C
gnomAD v4:
11-6617746-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6617746T>C , CM000673.2:g.6617746T>C | GRCh38 |
| NC_000011.9:g.6638977T>C , CM000673.1:g.6638977T>C | GRCh37 |
| NC_000011.8:g.6595553T>C | NCBI36 |
| NG_008653.1:g.6716A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682424.1:c.146A>G | ENSP00000507321.1:p.Asp49Gly | |
| ENST00000299427.12:c.260A>G MANE Select | ENSP00000299427.6:p.Asp87Gly | |
| ENST00000428886.7:n.348A>G | ||
| ENST00000436873.7:c.64A>G | ||
| ENST00000524788.2:n.1272A>G | ||
| ENST00000524903.2:n.1388A>G | ||
| ENST00000528571.6:c.120A>G | ENSP00000434647.1:p.Ter40Trp | |
| ENST00000530040.2:n.289A>G | ||
| ENST00000533371.6:c.-470A>G | ENSP00000437066.1:n.-470A>G | |
| ENST00000534644.6:n.261A>G | ||
| ENST00000642892.1:c.-417A>G | ENSP00000494165.1:n.-417A>G | |
| ENST00000643439.1:c.120A>G | ENSP00000495849.1:p.Ter40Trp | |
| ENST00000643479.1:n.289A>G | ||
| ENST00000643516.1:c.147A>G | ||
| ENST00000644151.1:n.1552A>G | ||
| ENST00000644218.1:c.260A>G | ENSP00000493574.1:p.Asp87Gly | |
| ENST00000644683.1:c.260A>G | ENSP00000494085.1:p.Asp87Gly | |
| ENST00000644810.1:c.230-593A>G | ENSP00000495895.1:n.230-593A>G | |
| ENST00000644831.1:n.289A>G | ||
| ENST00000644933.1:c.-470A>G | ENSP00000496133.1:n.-470A>G | |
| ENST00000645020.1:n.1288A>G | ||
| ENST00000645285.1:c.-470A>G | ENSP00000495058.1:n.-470A>G | |
| ENST00000645331.1:n.282A>G | ||
| ENST00000645620.1:c.-412A>G | ENSP00000493657.1:n.-412A>G | |
| ENST00000646777.1:n.289A>G | ||
| ENST00000647016.1:n.593A>G | ||
| ENST00000647152.1:c.-470A>G | ENSP00000495893.1:n.-470A>G | |
| ENST00000647209.1:c.*129A>G | ENSP00000495558.1:n.*129A>G | |
| ENST00000647346.1:n.1280A>G | ||
| ENST00000299427.10:c.260A>G | ENSP00000299427.6:p.Asp87Gly | |
| ENST00000428886.6:n.282A>G | ||
| ENST00000436873.6:c.260A>G | ENSP00000398136.2:p.Asp87Gly | |
| ENST00000528571.5:c.120A>G | ENSP00000434647.1:p.Ter40Trp | |
| ENST00000530040.1:n.372A>G | ||
| ENST00000533371.5:c.-470A>G | ENSP00000437066.1:n.-470A>G | |
| ENST00000534644.5:n.245A>G | ||
| ENST00000611494.4:c.260A>G | ENSP00000484546.1:p.Asp87Gly | |
| NM_000391.3:c.260A>G | NP_000382.3:p.Asp87Gly | |
| NM_000391.4:c.260A>G MANE Select | NP_000382.3:p.Asp87Gly |