Linked Data
dbSNP Id:
rs778429963
ExAC:
11:6638859 G / C
gnomAD v2:
11-6638859-G-C
gnomAD v4:
11-6617628-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6617628G>C , CM000673.2:g.6617628G>C | GRCh38 |
| NC_000011.9:g.6638859G>C , CM000673.1:g.6638859G>C | GRCh37 |
| NC_000011.8:g.6595435G>C | NCBI36 |
| NG_008653.1:g.6834C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682424.1:c.264C>G | ENSP00000507321.1:p.Ile88Met | |
| ENST00000299427.12:c.378C>G MANE Select | ENSP00000299427.6:p.Ile126Met | |
| ENST00000428886.7:n.466C>G | ||
| ENST00000436873.7:c.182C>G | ||
| ENST00000524788.2:n.1390C>G | ||
| ENST00000524903.2:n.1506C>G | ||
| ENST00000528571.6:c.*118C>G | ENSP00000434647.1:n.*118C>G | |
| ENST00000530040.2:n.407C>G | ||
| ENST00000533371.6:c.-352C>G | ENSP00000437066.1:n.-352C>G | |
| ENST00000534644.6:n.379C>G | ||
| ENST00000642892.1:c.-299C>G | ENSP00000494165.1:n.-299C>G | |
| ENST00000643439.1:c.*118C>G | ENSP00000495849.1:n.*118C>G | |
| ENST00000643479.1:n.407C>G | ||
| ENST00000643516.1:c.265C>G | ||
| ENST00000644151.1:n.1670C>G | ||
| ENST00000644218.1:c.378C>G | ENSP00000493574.1:p.Ile126Met | |
| ENST00000644683.1:c.378C>G | ENSP00000494085.1:p.Ile126Met | |
| ENST00000644810.1:c.230-475C>G | ENSP00000495895.1:n.230-475C>G | |
| ENST00000644831.1:n.407C>G | ||
| ENST00000644933.1:c.-352C>G | ENSP00000496133.1:n.-352C>G | |
| ENST00000645020.1:n.1406C>G | ||
| ENST00000645285.1:c.-352C>G | ENSP00000495058.1:n.-352C>G | |
| ENST00000645331.1:n.400C>G | ||
| ENST00000645620.1:c.-294C>G | ENSP00000493657.1:n.-294C>G | |
| ENST00000646777.1:n.407C>G | ||
| ENST00000647016.1:n.711C>G | ||
| ENST00000647152.1:c.-352C>G | ENSP00000495893.1:n.-352C>G | |
| ENST00000647209.1:c.*247C>G | ENSP00000495558.1:n.*247C>G | |
| ENST00000647346.1:n.1398C>G | ||
| ENST00000299427.10:c.378C>G | ENSP00000299427.6:p.Ile126Met | |
| ENST00000428886.6:n.400C>G | ||
| ENST00000436873.6:c.378C>G | ENSP00000398136.2:p.Ile126Met | |
| ENST00000528571.5:c.*118C>G | ENSP00000434647.1:n.*118C>G | |
| ENST00000530040.1:n.490C>G | ||
| ENST00000533371.5:c.-352C>G | ENSP00000437066.1:n.-352C>G | |
| ENST00000534644.5:n.363C>G | ||
| ENST00000611494.4:c.378C>G | ENSP00000484546.1:p.Ile126Met | |
| NM_000391.3:c.378C>G | NP_000382.3:p.Ile126Met | |
| NM_000391.4:c.378C>G MANE Select | NP_000382.3:p.Ile126Met |