Linked Data
ClinVar Variation Id:
318729
dbSNP Id:
rs141305257
gnomAD v2:
16-28503393-C-G
gnomAD v3:
16-28492072-C-G
gnomAD v4:
16-28492072-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.28492072C>G , CM000678.2:g.28492072C>G | GRCh38 |
| NC_000016.9:g.28503393C>G , CM000678.1:g.28503393C>G | GRCh37 |
| NC_000016.8:g.28410894C>G | NCBI36 |
| NG_008654.2:g.5231G>C , LRG_689:g.5231G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359984.12:c.-313G>C | ENSP00000353073.9:n.-313G>C | |
| ENST00000360019.8:c.-129G>C | ENSP00000353116.3:n.-129G>C | |
| ENST00000566083.6:n.177G>C | ||
| ENST00000567963.6:c.-212G>C | ENSP00000455387.2:n.-212G>C | |
| ENST00000569430.7:c.-129G>C | ENSP00000454229.1:n.-129G>C | |
| ENST00000636017.1:c.-129G>C | ENSP00000490538.1:n.-129G>C | |
| ENST00000636147.2:c.-129G>C MANE Select | ENSP00000490105.1:n.-129G>C | |
| ENST00000636355.1:n.908G>C | ||
| ENST00000636766.1:c.-129G>C | ENSP00000489841.1:n.-129G>C | |
| ENST00000636839.1:n.24G>C | ||
| ENST00000637107.1:c.-129G>C | ENSP00000490248.1:n.-129G>C | |
| ENST00000637110.1:n.508G>C | ||
| ENST00000637871.1:c.-129G>C | ENSP00000490670.1:n.-129G>C | |
| ENST00000355477.9:c.-313G>C | ENSP00000347660.6:n.-313G>C | |
| ENST00000359984.11:c.-475G>C | ENSP00000353073.8:n.-475G>C | |
| ENST00000360019.6:c.-129G>C | ENSP00000353116.2:n.-129G>C | |
| ENST00000563874.5:n.1226G>C | ||
| ENST00000566824.5:n.1G>C | ||
| ENST00000567804.1:c.-129G>C | ENSP00000455365.1:n.-129G>C | |
| ENST00000568443.1:c.-129G>C | ENSP00000454899.1:n.-129G>C | |
| ENST00000569430.5:c.-313G>C | ENSP00000454229.1:n.-313G>C | |
| ENST00000628023.2:c.-313G>C | ENSP00000486178.1:n.-313G>C | |
| ENST00000631023.2:c.-313G>C | ENSP00000486616.1:n.-313G>C | |
| NM_000086.2:c.-313G>C , LRG_689t1:c.-313G>C | NP_000077.1:n.-313G>C | |
| NM_001042432.1:c.-129G>C , LRG_689t2:c.-129G>C | NP_001035897.1:n.-129G>C | |
| NM_001286104.1:c.-129G>C | NP_001273033.1:n.-129G>C | |
| NM_001286105.1:c.-454G>C | NP_001273034.1:n.-454G>C | |
| NM_001286109.1:c.-396G>C | NP_001273038.1:n.-396G>C | |
| NM_001286110.1:c.-396G>C | NP_001273039.1:n.-396G>C | |
| NM_001042432.2:c.-129G>C MANE Select | NP_001035897.1:n.-129G>C | |
| NM_001286104.2:c.-129G>C | NP_001273033.1:n.-129G>C | |
| NM_001286105.2:c.-454G>C | NP_001273034.1:n.-454G>C | |
| NM_001286109.2:c.-396G>C | NP_001273038.1:n.-396G>C | |
| NM_001286110.2:c.-396G>C | NP_001273039.1:n.-396G>C |