Linked Data
dbSNP Id:
rs369840086
ExAC:
11:1774715 G / A
gnomAD v2:
11-1774715-G-A
gnomAD v3:
11-1753485-G-A
gnomAD v4:
11-1753485-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.1753485G>A , CM000673.2:g.1753485G>A | GRCh38 |
| NC_000011.9:g.1774715G>A , CM000673.1:g.1774715G>A | GRCh37 |
| NC_000011.8:g.1731291G>A | NCBI36 |
| NG_008655.1:g.15508C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000236671.7:c.*18C>T MANE Select | ENSP00000236671.2:n.*18C>T | |
| ENST00000367196.4:c.*18C>T | ENSP00000356164.4:n.*18C>T | |
| ENST00000427721.3:c.634+48C>T | ||
| ENST00000429746.2:c.*18C>T | ENSP00000402586.2:n.*18C>T | |
| ENST00000433655.6:c.*423C>T | ENSP00000404902.1:n.*423C>T | |
| ENST00000438213.6:c.*18C>T | ENSP00000415036.2:n.*18C>T | |
| ENST00000636397.1:c.1071+318C>T | ENSP00000489910.1:n.1071+318C>T | |
| ENST00000636571.1:c.*18C>T | ENSP00000490770.1:n.*18C>T | |
| ENST00000636579.1:c.72+318C>T | ENSP00000490489.1:n.72+318C>T | |
| ENST00000636615.1:c.1071+318C>T | ENSP00000490014.1:n.1071+318C>T | |
| ENST00000636843.1:c.*18C>T | ENSP00000490897.1:n.*18C>T | |
| ENST00000637158.1:n.855C>T | ||
| ENST00000637381.2:n.3685C>T | ||
| ENST00000637387.1:c.*18C>T | ENSP00000490598.1:n.*18C>T | |
| ENST00000637815.2:c.*18C>T | ENSP00000490344.1:n.*18C>T | |
| ENST00000637915.1:c.*18C>T | ENSP00000490471.1:n.*18C>T | |
| ENST00000637937.1:n.565C>T | ||
| ENST00000678991.1:c.*1118C>T | ENSP00000503019.1:n.*1118C>T | |
| ENST00000236671.6:c.*18C>T | ENSP00000236671.2:n.*18C>T | |
| ENST00000427721.2:c.471+318C>T | ENSP00000415840.2:n.471+318C>T | |
| ENST00000429746.1:c.588C>T | ENSP00000402586.1:n.588C>T | |
| ENST00000433655.5:c.*423C>T | ENSP00000404902.1:n.*423C>T | |
| NM_001909.4:c.*18C>T | NP_001900.1:n.*18C>T | |
| NM_001909.5:c.*18C>T MANE Select | NP_001900.1:n.*18C>T |