Linked Data
dbSNP Id:
rs373139337
ExAC:
11:6636596 C / A
gnomAD v2:
11-6636596-C-A
gnomAD v3:
11-6615365-C-A
gnomAD v4:
11-6615365-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6615365C>A , CM000673.2:g.6615365C>A | GRCh38 |
| NC_000011.9:g.6636596C>A , CM000673.1:g.6636596C>A | GRCh37 |
| NC_000011.8:g.6593172C>A | NCBI36 |
| NG_008653.1:g.9097G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682424.1:c.1153-36G>T | ENSP00000507321.1:n.1153-36G>T | |
| ENST00000299427.12:c.1267-36G>T MANE Select | ENSP00000299427.6:n.1267-36G>T | |
| ENST00000436873.7:c.504-36G>T | ||
| ENST00000524611.2:n.91G>T | ||
| ENST00000524924.2:n.387-36G>T | ||
| ENST00000533371.6:c.538-36G>T | ENSP00000437066.1:n.538-36G>T | |
| ENST00000642892.1:c.538-36G>T | ENSP00000494165.1:n.538-36G>T | |
| ENST00000643342.1:c.340-36G>T | ||
| ENST00000643439.1:c.*1007-36G>T | ENSP00000495849.1:n.*1007-36G>T | |
| ENST00000643479.1:n.1453-36G>T | ||
| ENST00000643516.1:c.776-36G>T | ||
| ENST00000644218.1:c.1078-36G>T | ENSP00000493574.1:n.1078-36G>T | |
| ENST00000644683.1:c.*720-36G>T | ENSP00000494085.1:n.*720-36G>T | |
| ENST00000644810.1:c.988-36G>T | ENSP00000495895.1:n.988-36G>T | |
| ENST00000644831.1:n.1443-36G>T | ||
| ENST00000644933.1:c.*133-36G>T | ENSP00000496133.1:n.*133-36G>T | |
| ENST00000645285.1:c.*133-36G>T | ENSP00000495058.1:n.*133-36G>T | |
| ENST00000645331.1:n.2472-36G>T | ||
| ENST00000645620.1:c.538-36G>T | ENSP00000493657.1:n.538-36G>T | |
| ENST00000646691.1:n.1118G>T | ||
| ENST00000646777.1:n.1600-36G>T | ||
| ENST00000647016.1:n.1747-36G>T | ||
| ENST00000647152.1:c.538-36G>T | ENSP00000495893.1:n.538-36G>T | |
| ENST00000647209.1:c.*1136-36G>T | ENSP00000495558.1:n.*1136-36G>T | |
| ENST00000647346.1:n.2287-36G>T | ||
| ENST00000299427.10:c.1267-36G>T | ENSP00000299427.6:n.1267-36G>T | |
| ENST00000524611.1:n.109G>T | ||
| ENST00000524924.1:n.222-36G>T | ||
| ENST00000532191.1:n.320-36G>T | ||
| ENST00000533371.5:c.538-36G>T | ENSP00000437066.1:n.538-36G>T | |
| ENST00000611494.4:c.1267-36G>T | ENSP00000484546.1:n.1267-36G>T | |
| NM_000391.3:c.1267-36G>T | NP_000382.3:n.1267-36G>T | |
| NM_000391.4:c.1267-36G>T MANE Select | NP_000382.3:n.1267-36G>T |