Linked Data
ClinVar Variation Id:
56276
ClinVar RCV Id:
RCV000049688
dbSNP Id:
rs386833726
gnomAD v4:
16-28491558-C-A
PubMed:
PMID:21990111
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.28491558C>A , CM000678.2:g.28491558C>A | GRCh38 |
| NC_000016.9:g.28502879C>A , CM000678.1:g.28502879C>A | GRCh37 |
| NC_000016.8:g.28410380C>A | NCBI36 |
| NG_008654.2:g.5745G>T , LRG_689:g.5745G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333496.14:c.49G>T | ENSP00000329171.9:p.Glu17Ter | |
| ENST00000355477.10:c.49G>T | ENSP00000347660.7:p.Glu17Ter | |
| ENST00000357857.14:c.-38+156G>T | ENSP00000350523.9:n.-38+156G>T | |
| ENST00000359984.12:c.49G>T | ENSP00000353073.9:p.Glu17Ter | |
| ENST00000360019.8:c.49G>T | ENSP00000353116.3:p.Glu17Ter | |
| ENST00000395653.9:c.-38+156G>T | ENSP00000379014.5:n.-38+156G>T | |
| ENST00000561505.2:c.-38+156G>T | ENSP00000457615.2:n.-38+156G>T | |
| ENST00000561689.6:n.334G>T | ||
| ENST00000565316.6:c.49G>T | ENSP00000456117.1:p.Glu17Ter | |
| ENST00000565778.6:c.49G>T | ENSP00000458015.1:p.Glu17Ter | |
| ENST00000566083.6:n.507G>T | ||
| ENST00000566824.6:n.29G>T | ||
| ENST00000567495.6:c.49G>T | ENSP00000456013.2:p.Glu17Ter | |
| ENST00000567963.6:c.-38+156G>T | ENSP00000455387.2:n.-38+156G>T | |
| ENST00000568076.6:n.176G>T | ||
| ENST00000568422.6:c.49G>T | ENSP00000455549.2:p.Glu17Ter | |
| ENST00000568443.2:c.202G>T | ENSP00000454899.2:p.Glu68Ter | |
| ENST00000568452.6:n.152G>T | ||
| ENST00000568472.6:n.298+156G>T | ||
| ENST00000568497.6:c.-390+156G>T | ENSP00000456414.2:n.-390+156G>T | |
| ENST00000568558.6:c.49G>T | ENSP00000455603.2:p.Glu17Ter | |
| ENST00000569430.7:c.49G>T | ENSP00000454229.1:p.Glu17Ter | |
| ENST00000628023.3:c.49G>T | ENSP00000486178.1:p.Glu17Ter | |
| ENST00000635861.1:c.-38+156G>T | ENSP00000490034.1:n.-38+156G>T | |
| ENST00000635887.1:c.49G>T | ENSP00000490709.1:p.Glu17Ter | |
| ENST00000635958.1:n.160G>T | ||
| ENST00000635973.1:c.49G>T | ENSP00000490363.1:p.Glu17Ter | |
| ENST00000636017.1:c.49G>T | ENSP00000490538.1:p.Glu17Ter | |
| ENST00000636078.1:n.91G>T | ||
| ENST00000636147.2:c.49G>T MANE Select | ENSP00000490105.1:p.Glu17Ter | |
| ENST00000636172.1:c.49G>T | ENSP00000490505.1:p.Glu17Ter | |
| ENST00000636228.1:c.-38+156G>T | ENSP00000489627.1:n.-38+156G>T | |
| ENST00000636503.1:c.49G>T | ENSP00000489824.1:p.Glu17Ter | |
| ENST00000636766.1:c.49G>T | ENSP00000489841.1:p.Glu17Ter | |
| ENST00000636839.1:n.201G>T | ||
| ENST00000636853.1:n.125G>T | ||
| ENST00000636866.1:c.49G>T | ENSP00000490880.1:p.Glu17Ter | |
| ENST00000636977.1:n.148G>T | ||
| ENST00000637100.1:c.49G>T | ENSP00000490394.1:p.Glu17Ter | |
| ENST00000637107.1:c.202G>T | ENSP00000490248.1:p.Glu68Ter | |
| ENST00000637184.1:c.49G>T | ENSP00000489952.1:p.Glu17Ter | |
| ENST00000637299.1:c.47-45G>T | ENSP00000489823.1:n.47-45G>T | |
| ENST00000637376.1:c.49G>T | ENSP00000490758.1:p.Glu17Ter | |
| ENST00000637578.1:c.-38+156G>T | ENSP00000490206.1:n.-38+156G>T | |
| ENST00000637699.1:c.49G>T | ENSP00000490049.1:p.Glu17Ter | |
| ENST00000637871.1:c.49G>T | ENSP00000490670.1:p.Glu17Ter | |
| ENST00000637985.1:c.49G>T | ENSP00000490932.1:p.Glu17Ter | |
| ENST00000333496.13:c.49G>T | ENSP00000329171.9:p.Glu17Ter | |
| ENST00000355477.9:c.49G>T | ENSP00000347660.6:p.Glu17Ter | |
| ENST00000357806.11:c.49G>T | ENSP00000350457.7:p.Glu17Ter | |
| ENST00000357857.13:c.-38+156G>T | ENSP00000350523.9:n.-38+156G>T | |
| ENST00000359984.11:c.-114G>T | ENSP00000353073.8:n.-114G>T | |
| ENST00000360019.6:c.49G>T | ENSP00000353116.2:p.Glu17Ter | |
| ENST00000395653.8:c.-96+156G>T | ENSP00000379014.4:n.-96+156G>T | |
| ENST00000561505.1:c.-96+156G>T | ENSP00000457615.1:n.-96+156G>T | |
| ENST00000561689.5:n.46+156G>T | ||
| ENST00000563874.5:n.1403G>T | ||
| ENST00000564574.5:n.173+156G>T | ||
| ENST00000565047.1:n.113+156G>T | ||
| ENST00000565140.5:c.49G>T | ENSP00000455342.1:p.Glu17Ter | |
| ENST00000565236.1:n.332G>T | ||
| ENST00000565316.5:c.49G>T | ENSP00000456117.1:p.Glu17Ter | |
| ENST00000565688.5:c.49G>T | ENSP00000456122.1:p.Glu17Ter | |
| ENST00000565778.5:c.49G>T | ENSP00000458015.1:p.Glu17Ter | |
| ENST00000566057.5:c.49G>T | ENSP00000456693.1:p.Glu17Ter | |
| ENST00000566083.5:n.280G>T | ||
| ENST00000566824.5:n.178G>T | ||
| ENST00000567495.5:c.49G>T | ENSP00000456013.1:p.Glu17Ter | |
| ENST00000567804.1:c.49G>T | ENSP00000455365.1:p.Glu17Ter | |
| ENST00000567963.5:c.49G>T | ENSP00000455387.1:p.Glu17Ter | |
| ENST00000568076.5:n.49G>T | ||
| ENST00000568224.4:c.-38+156G>T | ENSP00000454253.1:n.-38+156G>T | |
| ENST00000568422.5:c.-96+156G>T | ENSP00000455549.1:n.-96+156G>T | |
| ENST00000568443.1:c.202G>T | ENSP00000454899.1:p.Glu68Ter | |
| ENST00000568452.5:n.49G>T | ||
| ENST00000568472.5:n.60+156G>T | ||
| ENST00000568497.5:c.49G>T | ENSP00000456414.1:p.Glu17Ter | |
| ENST00000568558.5:c.-38+156G>T | ENSP00000455603.1:n.-38+156G>T | |
| ENST00000569030.5:c.49G>T | ENSP00000454680.1:p.Glu17Ter | |
| ENST00000569430.5:c.49G>T | ENSP00000454229.1:p.Glu17Ter | |
| ENST00000628023.2:c.49G>T | ENSP00000486178.1:p.Glu17Ter | |
| ENST00000631023.2:c.49G>T | ENSP00000486616.1:p.Glu17Ter | |
| NM_000086.2:c.49G>T , LRG_689t1:c.49G>T | NP_000077.1:p.Glu17Ter | |
| NM_001042432.1:c.49G>T , LRG_689t2:c.49G>T | NP_001035897.1:p.Glu17Ter | |
| NM_001286104.1:c.49G>T | NP_001273033.1:p.Glu17Ter | |
| NM_001286105.1:c.-96+156G>T | NP_001273034.1:n.-96+156G>T | |
| NM_001286109.1:c.-38+156G>T | NP_001273038.1:n.-38+156G>T | |
| NM_001286110.1:c.-38+156G>T | NP_001273039.1:n.-38+156G>T | |
| NM_001042432.2:c.49G>T MANE Select | NP_001035897.1:p.Glu17Ter | |
| NM_001286104.2:c.49G>T | NP_001273033.1:p.Glu17Ter | |
| NM_001286105.2:c.-96+156G>T | NP_001273034.1:n.-96+156G>T | |
| NM_001286109.2:c.-38+156G>T | NP_001273038.1:n.-38+156G>T | |
| NM_001286110.2:c.-38+156G>T | NP_001273039.1:n.-38+156G>T |