Linked Data
dbSNP Id:
rs762702090
ExAC:
11:6638451 C / T
gnomAD v2:
11-6638451-C-T
gnomAD v4:
11-6617220-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6617220C>T , CM000673.2:g.6617220C>T | GRCh38 |
| NC_000011.9:g.6638451C>T , CM000673.1:g.6638451C>T | GRCh37 |
| NC_000011.8:g.6595027C>T | NCBI36 |
| NG_008653.1:g.7242G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682424.1:c.395-67G>A | ENSP00000507321.1:n.395-67G>A | |
| ENST00000299427.12:c.509-67G>A MANE Select | ENSP00000299427.6:n.509-67G>A | |
| ENST00000428886.7:n.677G>A | ||
| ENST00000436873.7:c.312+81G>A | ||
| ENST00000524788.2:n.1601G>A | ||
| ENST00000524903.2:n.1717G>A | ||
| ENST00000528571.6:c.*329G>A | ENSP00000434647.1:n.*329G>A | |
| ENST00000528807.2:n.165-67G>A | ||
| ENST00000530040.2:n.479+139G>A | ||
| ENST00000533371.6:c.-221-67G>A | ENSP00000437066.1:n.-221-67G>A | |
| ENST00000534644.6:n.457-67G>A | ||
| ENST00000642892.1:c.-221-67G>A | ENSP00000494165.1:n.-221-67G>A | |
| ENST00000643439.1:c.*249-67G>A | ENSP00000495849.1:n.*249-67G>A | |
| ENST00000643479.1:n.538-67G>A | ||
| ENST00000643516.1:c.395+81G>A | ||
| ENST00000644151.1:n.1881G>A | ||
| ENST00000644218.1:c.509-67G>A | ENSP00000493574.1:n.509-67G>A | |
| ENST00000644683.1:c.451-67G>A | ENSP00000494085.1:n.451-67G>A | |
| ENST00000644810.1:c.230-67G>A | ENSP00000495895.1:n.230-67G>A | |
| ENST00000644831.1:n.618G>A | ||
| ENST00000644933.1:c.-221-67G>A | ENSP00000496133.1:n.-221-67G>A | |
| ENST00000645020.1:n.1617G>A | ||
| ENST00000645285.1:c.-221-67G>A | ENSP00000495058.1:n.-221-67G>A | |
| ENST00000645331.1:n.808G>A | ||
| ENST00000645620.1:c.-221-67G>A | ENSP00000493657.1:n.-221-67G>A | |
| ENST00000646777.1:n.618G>A | ||
| ENST00000647016.1:n.922G>A | ||
| ENST00000647152.1:c.-221-67G>A | ENSP00000495893.1:n.-221-67G>A | |
| ENST00000647209.1:c.*378-67G>A | ENSP00000495558.1:n.*378-67G>A | |
| ENST00000647346.1:n.1529-67G>A | ||
| ENST00000299427.10:c.509-67G>A | ENSP00000299427.6:n.509-67G>A | |
| ENST00000428886.6:n.611G>A | ||
| ENST00000436873.6:c.450+139G>A | ENSP00000398136.2:n.450+139G>A | |
| ENST00000524788.1:n.142G>A | ||
| ENST00000528571.5:c.*249-67G>A | ENSP00000434647.1:n.*249-67G>A | |
| ENST00000533371.5:c.-221-67G>A | ENSP00000437066.1:n.-221-67G>A | |
| ENST00000534644.5:n.494-67G>A | ||
| ENST00000611494.4:c.509-67G>A | ENSP00000484546.1:n.509-67G>A | |
| NM_000391.3:c.509-67G>A | NP_000382.3:n.509-67G>A | |
| NM_000391.4:c.509-67G>A MANE Select | NP_000382.3:n.509-67G>A |