Linked Data
ClinVar Variation Id:
56244
dbSNP Id:
rs386833695
ExAC:
16:28493481 C / T
gnomAD v2:
16-28493481-C-T
gnomAD v3:
16-28482160-C-T
gnomAD v4:
16-28482160-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.28482160C>T , CM000678.2:g.28482160C>T | GRCh38 |
| NC_000016.9:g.28493481C>T , CM000678.1:g.28493481C>T | GRCh37 |
| NC_000016.8:g.28400982C>T | NCBI36 |
| NG_008654.2:g.15143G>A , LRG_689:g.15143G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000333496.14:c.929G>A | ENSP00000329171.9:p.Arg310His | |
| ENST00000355477.10:c.857G>A | ENSP00000347660.7:p.Arg286His | |
| ENST00000357857.14:c.839G>A | ENSP00000350523.9:p.Arg280His | |
| ENST00000359984.12:c.1001G>A | ENSP00000353073.9:p.Arg334His | |
| ENST00000360019.8:c.929G>A | ENSP00000353116.3:p.Arg310His | |
| ENST00000395653.9:c.542G>A | ENSP00000379014.5:p.Arg181His | |
| ENST00000561689.6:n.1414G>A | ||
| ENST00000564091.6:c.341G>A | ENSP00000454466.2:p.Arg114His | |
| ENST00000565316.6:c.950G>A | ENSP00000456117.1:p.Arg317His | |
| ENST00000566824.6:n.1061G>A | ||
| ENST00000567963.6:c.839G>A | ENSP00000455387.2:p.Arg280His | |
| ENST00000568076.6:n.1430G>A | ||
| ENST00000568422.6:c.*238G>A | ENSP00000455549.2:n.*238G>A | |
| ENST00000568452.6:n.1232G>A | ||
| ENST00000568497.6:c.32G>A | ENSP00000456414.2:p.Arg11His | |
| ENST00000569430.7:c.1001G>A | ENSP00000454229.1:p.Arg334His | |
| ENST00000628023.3:c.*297G>A | ENSP00000486178.1:n.*297G>A | |
| ENST00000635861.1:c.*653G>A | ENSP00000490034.1:n.*653G>A | |
| ENST00000635887.1:c.1001G>A | ENSP00000490709.1:p.Arg334His | |
| ENST00000635958.1:n.1286G>A | ||
| ENST00000635973.1:c.752G>A | ENSP00000490363.1:p.Arg251His | |
| ENST00000636017.1:c.*525G>A | ENSP00000490538.1:n.*525G>A | |
| ENST00000636078.1:n.1123G>A | ||
| ENST00000636147.2:c.1001G>A MANE Select | ENSP00000490105.1:p.Arg334His | |
| ENST00000636172.1:c.*525G>A | ENSP00000490505.1:n.*525G>A | |
| ENST00000636228.1:c.695G>A | ENSP00000489627.1:p.Arg232His | |
| ENST00000636351.1:n.895G>A | ||
| ENST00000636503.1:c.1001G>A | ENSP00000489824.1:p.Arg334His | |
| ENST00000636685.1:n.682G>A | ||
| ENST00000636766.1:c.1001G>A | ENSP00000489841.1:p.Arg334His | |
| ENST00000636839.1:n.1375G>A | ||
| ENST00000636853.1:n.1916G>A | ||
| ENST00000636866.1:c.1001G>A | ENSP00000490880.1:p.Arg334His | |
| ENST00000636907.1:n.1152G>A | ||
| ENST00000636977.1:n.2371G>A | ||
| ENST00000637050.1:n.1390G>A | ||
| ENST00000637100.1:c.950G>A | ENSP00000490394.1:p.Arg317His | |
| ENST00000637107.1:c.*525G>A | ENSP00000490248.1:n.*525G>A | |
| ENST00000637184.1:c.1001G>A | ENSP00000489952.1:p.Arg334His | |
| ENST00000637299.1:c.*810G>A | ENSP00000489823.1:n.*810G>A | |
| ENST00000637376.1:c.1001G>A | ENSP00000490758.1:p.Arg334His | |
| ENST00000637378.1:c.173G>A | ENSP00000490831.1:p.Arg58His | |
| ENST00000637578.1:c.*525G>A | ENSP00000490206.1:n.*525G>A | |
| ENST00000637699.1:c.912G>A | ENSP00000490049.1:n.912G>A | |
| ENST00000637745.1:c.340G>A | ||
| ENST00000637871.1:c.*699G>A | ENSP00000490670.1:n.*699G>A | |
| ENST00000638036.1:c.163G>A | ||
| ENST00000333496.13:c.929G>A | ENSP00000329171.9:p.Arg310His | |
| ENST00000355477.9:c.*238G>A | ENSP00000347660.6:n.*238G>A | |
| ENST00000357806.11:c.704G>A | ENSP00000350457.7:p.Arg235His | |
| ENST00000357857.13:c.839G>A | ENSP00000350523.9:p.Arg280His | |
| ENST00000359984.11:c.695G>A | ENSP00000353073.8:p.Arg232His | |
| ENST00000360019.6:c.1001G>A | ENSP00000353116.2:p.Arg334His | |
| ENST00000395653.8:c.701G>A | ENSP00000379014.4:p.Arg234His | |
| ENST00000561689.5:n.970G>A | ||
| ENST00000563874.5:n.2529G>A | ||
| ENST00000564091.5:c.90G>A | ||
| ENST00000565140.5:c.784G>A | ENSP00000455342.1:n.784G>A | |
| ENST00000565316.5:c.950G>A | ENSP00000456117.1:p.Arg317His | |
| ENST00000565354.5:n.314G>A | ||
| ENST00000566057.5:c.615G>A | ENSP00000456693.1:n.615G>A | |
| ENST00000567963.5:c.906+317G>A | ENSP00000455387.1:n.906+317G>A | |
| ENST00000568076.5:n.912G>A | ||
| ENST00000568224.4:c.767G>A | ENSP00000454253.1:p.Arg256His | |
| ENST00000568422.5:c.*238G>A | ENSP00000455549.1:n.*238G>A | |
| ENST00000568452.5:n.1129G>A | ||
| ENST00000568558.5:c.542G>A | ENSP00000455603.1:p.Arg181His | |
| ENST00000569030.5:c.671G>A | ENSP00000454680.1:p.Arg224His | |
| ENST00000569430.5:c.1001G>A | ENSP00000454229.1:p.Arg334His | |
| ENST00000628023.2:c.*297G>A | ENSP00000486178.1:n.*297G>A | |
| ENST00000631023.2:c.906+317G>A | ENSP00000486616.1:n.906+317G>A | |
| NM_000086.2:c.1001G>A , LRG_689t1:c.1001G>A | NP_000077.1:p.Arg334His | |
| NM_001042432.1:c.1001G>A , LRG_689t2:c.1001G>A | NP_001035897.1:p.Arg334His | |
| NM_001286104.1:c.929G>A | NP_001273033.1:p.Arg310His | |
| NM_001286105.1:c.701G>A | NP_001273034.1:p.Arg234His | |
| NM_001286109.1:c.767G>A | NP_001273038.1:p.Arg256His | |
| NM_001286110.1:c.839G>A | NP_001273039.1:p.Arg280His | |
| NM_001042432.2:c.1001G>A MANE Select | NP_001035897.1:p.Arg334His | |
| NM_001286104.2:c.929G>A | NP_001273033.1:p.Arg310His | |
| NM_001286105.2:c.701G>A | NP_001273034.1:p.Arg234His | |
| NM_001286109.2:c.767G>A | NP_001273038.1:p.Arg256His | |
| NM_001286110.2:c.839G>A | NP_001273039.1:p.Arg280His |