Linked Data
ClinVar Variation Id:
318712
dbSNP Id:
rs113845299
gnomAD v2:
16-28488738-G-A
gnomAD v3:
16-28477417-G-A
gnomAD v4:
16-28477417-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.28477417G>A , CM000678.2:g.28477417G>A | GRCh38 |
| NC_000016.9:g.28488738G>A , CM000678.1:g.28488738G>A | GRCh37 |
| NC_000016.8:g.28396239G>A | NCBI36 |
| NG_008654.2:g.19886C>T , LRG_689:g.19886C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333496.14:c.*99C>T | ENSP00000329171.9:n.*99C>T | |
| ENST00000357857.14:c.*99C>T | ENSP00000350523.9:n.*99C>T | |
| ENST00000359984.12:c.*99C>T | ENSP00000353073.9:n.*99C>T | |
| ENST00000360019.8:c.*99C>T | ENSP00000353116.3:n.*99C>T | |
| ENST00000395653.9:c.*99C>T | ENSP00000379014.5:n.*99C>T | |
| ENST00000561689.6:n.1829C>T | ||
| ENST00000564091.6:c.709+47C>T | ENSP00000454466.2:n.709+47C>T | |
| ENST00000568076.6:n.1845C>T | ||
| ENST00000569430.7:c.*99C>T | ENSP00000454229.1:n.*99C>T | |
| ENST00000635887.1:c.*52+47C>T | ENSP00000490709.1:n.*52+47C>T | |
| ENST00000635958.1:n.1823C>T | ||
| ENST00000636017.1:c.*893+47C>T | ENSP00000490538.1:n.*893+47C>T | |
| ENST00000636078.1:n.1491+47C>T | ||
| ENST00000636147.2:c.*99C>T MANE Select | ENSP00000490105.1:n.*99C>T | |
| ENST00000636351.1:n.1263+47C>T | ||
| ENST00000636503.1:c.*399+47C>T | ENSP00000489824.1:n.*399+47C>T | |
| ENST00000636766.1:c.*99C>T | ENSP00000489841.1:n.*99C>T | |
| ENST00000636839.1:n.1912C>T | ||
| ENST00000636866.1:c.*211C>T | ENSP00000490880.1:n.*211C>T | |
| ENST00000636907.1:n.1567C>T | ||
| ENST00000636977.1:n.2908C>T | ||
| ENST00000637100.1:c.1006-3155C>T | ENSP00000490394.1:n.1006-3155C>T | |
| ENST00000637107.1:c.*940C>T | ENSP00000490248.1:n.*940C>T | |
| ENST00000637184.1:c.*446C>T | ENSP00000489952.1:n.*446C>T | |
| ENST00000637299.1:c.*1178+47C>T | ENSP00000489823.1:n.*1178+47C>T | |
| ENST00000637376.1:c.*399+47C>T | ENSP00000490758.1:n.*399+47C>T | |
| ENST00000637378.1:c.228+4688C>T | ENSP00000490831.1:n.228+4688C>T | |
| ENST00000637578.1:c.*940C>T | ENSP00000490206.1:n.*940C>T | |
| ENST00000637745.1:c.806+47C>T | ||
| ENST00000638036.1:c.531+47C>T | ||
| ENST00000333496.13:c.*99C>T | ENSP00000329171.9:n.*99C>T | |
| ENST00000355477.9:c.*653C>T | ENSP00000347660.6:n.*653C>T | |
| ENST00000357806.11:c.*99C>T | ENSP00000350457.7:n.*99C>T | |
| ENST00000357857.13:c.*99C>T | ENSP00000350523.9:n.*99C>T | |
| ENST00000359984.11:c.*99C>T | ENSP00000353073.8:n.*99C>T | |
| ENST00000360019.6:c.*99C>T | ENSP00000353116.2:n.*99C>T | |
| ENST00000395653.8:c.*99C>T | ENSP00000379014.4:n.*99C>T | |
| ENST00000563874.5:n.2944C>T | ||
| ENST00000564091.5:c.458+47C>T | ||
| ENST00000565354.5:n.729C>T | ||
| ENST00000567963.5:c.*99C>T | ENSP00000455387.1:n.*99C>T | |
| ENST00000568224.4:c.*52+47C>T | ENSP00000454253.1:n.*52+47C>T | |
| ENST00000569430.5:c.*99C>T | ENSP00000454229.1:n.*99C>T | |
| ENST00000628023.2:c.*712C>T | ENSP00000486178.1:n.*712C>T | |
| ENST00000631023.2:c.*99C>T | ENSP00000486616.1:n.*99C>T | |
| NM_000086.2:c.*99C>T , LRG_689t1:c.*99C>T | NP_000077.1:n.*99C>T | |
| NM_001042432.1:c.*99C>T , LRG_689t2:c.*99C>T | NP_001035897.1:n.*99C>T | |
| NM_001286104.1:c.*99C>T | NP_001273033.1:n.*99C>T | |
| NM_001286105.1:c.*99C>T | NP_001273034.1:n.*99C>T | |
| NM_001286109.1:c.*52+47C>T | NP_001273038.1:n.*52+47C>T | |
| NM_001286110.1:c.*99C>T | NP_001273039.1:n.*99C>T | |
| NM_001042432.2:c.*99C>T MANE Select | NP_001035897.1:n.*99C>T | |
| NM_001286104.2:c.*99C>T | NP_001273033.1:n.*99C>T | |
| NM_001286105.2:c.*99C>T | NP_001273034.1:n.*99C>T | |
| NM_001286109.2:c.*52+47C>T | NP_001273038.1:n.*52+47C>T | |
| NM_001286110.2:c.*99C>T | NP_001273039.1:n.*99C>T |