Linked Data
ClinVar Variation Id:
56248
ClinVar RCV Id:
RCV000049660
dbSNP Id:
rs386833699
PubMed:
PMID:21990111
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.28482105C>G , CM000678.2:g.28482105C>G | GRCh38 |
| NC_000016.9:g.28493426C>G , CM000678.1:g.28493426C>G | GRCh37 |
| NC_000016.8:g.28400927C>G | NCBI36 |
| NG_008654.2:g.15198G>C , LRG_689:g.15198G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333496.14:c.984G>C | ENSP00000329171.9:p.Gln328His | |
| ENST00000355477.10:c.912G>C | ENSP00000347660.7:p.Gln304His | |
| ENST00000357857.14:c.894G>C | ENSP00000350523.9:p.Gln298His | |
| ENST00000359984.12:c.1056G>C | ENSP00000353073.9:p.Gln352His | |
| ENST00000360019.8:c.984G>C | ENSP00000353116.3:p.Gln328His | |
| ENST00000395653.9:c.597G>C | ENSP00000379014.5:p.Gln199His | |
| ENST00000561689.6:n.1469G>C | ||
| ENST00000564091.6:c.396G>C | ENSP00000454466.2:p.Gln132His | |
| ENST00000565316.6:c.1005G>C | ENSP00000456117.1:p.Gln335His | |
| ENST00000566824.6:n.1116G>C | ||
| ENST00000567963.6:c.894G>C | ENSP00000455387.2:p.Gln298His | |
| ENST00000568076.6:n.1485G>C | ||
| ENST00000568422.6:c.*293G>C | ENSP00000455549.2:n.*293G>C | |
| ENST00000568452.6:n.1287G>C | ||
| ENST00000569430.7:c.1056G>C | ENSP00000454229.1:p.Gln352His | |
| ENST00000628023.3:c.*352G>C | ENSP00000486178.1:n.*352G>C | |
| ENST00000635861.1:c.*708G>C | ENSP00000490034.1:n.*708G>C | |
| ENST00000635887.1:c.1056G>C | ENSP00000490709.1:p.Gln352His | |
| ENST00000635958.1:n.1341G>C | ||
| ENST00000635973.1:c.807G>C | ENSP00000490363.1:p.Gln269His | |
| ENST00000636017.1:c.*580G>C | ENSP00000490538.1:n.*580G>C | |
| ENST00000636078.1:n.1178G>C | ||
| ENST00000636147.2:c.1056G>C MANE Select | ENSP00000490105.1:p.Gln352His | |
| ENST00000636172.1:c.*580G>C | ENSP00000490505.1:n.*580G>C | |
| ENST00000636228.1:c.750G>C | ENSP00000489627.1:p.Gln250His | |
| ENST00000636351.1:n.950G>C | ||
| ENST00000636503.1:c.1056G>C | ENSP00000489824.1:p.Gln352His | |
| ENST00000636685.1:n.737G>C | ||
| ENST00000636766.1:c.1056G>C | ENSP00000489841.1:p.Gln352His | |
| ENST00000636839.1:n.1430G>C | ||
| ENST00000636853.1:n.1971G>C | ||
| ENST00000636866.1:c.1056G>C | ENSP00000490880.1:p.Gln352His | |
| ENST00000636907.1:n.1207G>C | ||
| ENST00000636977.1:n.2426G>C | ||
| ENST00000637050.1:n.1445G>C | ||
| ENST00000637100.1:c.1005G>C | ENSP00000490394.1:p.Gln335His | |
| ENST00000637107.1:c.*580G>C | ENSP00000490248.1:n.*580G>C | |
| ENST00000637184.1:c.1056G>C | ENSP00000489952.1:p.Gln352His | |
| ENST00000637299.1:c.*865G>C | ENSP00000489823.1:n.*865G>C | |
| ENST00000637376.1:c.1056G>C | ENSP00000490758.1:p.Gln352His | |
| ENST00000637378.1:c.228G>C | ENSP00000490831.1:p.Gln76His | |
| ENST00000637578.1:c.*580G>C | ENSP00000490206.1:n.*580G>C | |
| ENST00000637699.1:c.967G>C | ENSP00000490049.1:n.967G>C | |
| ENST00000637745.1:c.395G>C | ||
| ENST00000637871.1:c.*754G>C | ENSP00000490670.1:n.*754G>C | |
| ENST00000638036.1:c.218G>C | ||
| ENST00000333496.13:c.984G>C | ENSP00000329171.9:p.Gln328His | |
| ENST00000355477.9:c.*293G>C | ENSP00000347660.6:n.*293G>C | |
| ENST00000357806.11:c.759G>C | ENSP00000350457.7:p.Gln253His | |
| ENST00000357857.13:c.894G>C | ENSP00000350523.9:p.Gln298His | |
| ENST00000359984.11:c.750G>C | ENSP00000353073.8:p.Gln250His | |
| ENST00000360019.6:c.1056G>C | ENSP00000353116.2:p.Gln352His | |
| ENST00000395653.8:c.756G>C | ENSP00000379014.4:p.Gln252His | |
| ENST00000561689.5:n.1025G>C | ||
| ENST00000563874.5:n.2584G>C | ||
| ENST00000564091.5:c.145G>C | ||
| ENST00000565140.5:c.839G>C | ENSP00000455342.1:n.839G>C | |
| ENST00000565316.5:c.1005G>C | ENSP00000456117.1:p.Gln335His | |
| ENST00000565354.5:n.369G>C | ||
| ENST00000566057.5:c.670G>C | ENSP00000456693.1:n.670G>C | |
| ENST00000567963.5:c.906+372G>C | ENSP00000455387.1:n.906+372G>C | |
| ENST00000568076.5:n.967G>C | ||
| ENST00000568224.4:c.822G>C | ENSP00000454253.1:p.Gln274His | |
| ENST00000568422.5:c.*293G>C | ENSP00000455549.1:n.*293G>C | |
| ENST00000568452.5:n.1184G>C | ||
| ENST00000569030.5:c.726G>C | ENSP00000454680.1:p.Gln242His | |
| ENST00000569430.5:c.1056G>C | ENSP00000454229.1:p.Gln352His | |
| ENST00000628023.2:c.*352G>C | ENSP00000486178.1:n.*352G>C | |
| ENST00000631023.2:c.906+372G>C | ENSP00000486616.1:n.906+372G>C | |
| NM_000086.2:c.1056G>C , LRG_689t1:c.1056G>C | NP_000077.1:p.Gln352His | |
| NM_001042432.1:c.1056G>C , LRG_689t2:c.1056G>C | NP_001035897.1:p.Gln352His | |
| NM_001286104.1:c.984G>C | NP_001273033.1:p.Gln328His | |
| NM_001286105.1:c.756G>C | NP_001273034.1:p.Gln252His | |
| NM_001286109.1:c.822G>C | NP_001273038.1:p.Gln274His | |
| NM_001286110.1:c.894G>C | NP_001273039.1:p.Gln298His | |
| NM_001042432.2:c.1056G>C MANE Select | NP_001035897.1:p.Gln352His | |
| NM_001286104.2:c.984G>C | NP_001273033.1:p.Gln328His | |
| NM_001286105.2:c.756G>C | NP_001273034.1:p.Gln252His | |
| NM_001286109.2:c.822G>C | NP_001273038.1:p.Gln274His | |
| NM_001286110.2:c.894G>C | NP_001273039.1:p.Gln298His |