Linked Data
ClinVar Variation Id:
136785
dbSNP Id:
rs201206239
ExAC:
16:28488924 C / T
gnomAD v2:
16-28488924-C-T
gnomAD v3:
16-28477603-C-T
gnomAD v4:
16-28477603-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.28477603C>T , CM000678.2:g.28477603C>T | GRCh38 |
| NC_000016.9:g.28488924C>T , CM000678.1:g.28488924C>T | GRCh37 |
| NC_000016.8:g.28396425C>T | NCBI36 |
| NG_008654.2:g.19700G>A , LRG_689:g.19700G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333496.14:c.1158G>A | ENSP00000329171.9:p.Ala386= | |
| ENST00000355477.10:c.1086G>A | ENSP00000347660.7:p.Ala362= | |
| ENST00000357857.14:c.1068G>A | ENSP00000350523.9:p.Ala356= | |
| ENST00000359984.12:c.1230G>A | ENSP00000353073.9:p.Ala410= | |
| ENST00000360019.8:c.1158G>A | ENSP00000353116.3:p.Ala386= | |
| ENST00000395653.9:c.771G>A | ENSP00000379014.5:p.Ala257= | |
| ENST00000561689.6:n.1643G>A | ||
| ENST00000564091.6:c.570G>A | ENSP00000454466.2:p.Ala190= | |
| ENST00000565316.6:c.1179G>A | ENSP00000456117.1:p.Ala393= | |
| ENST00000567963.6:c.1068G>A | ENSP00000455387.2:p.Ala356= | |
| ENST00000568076.6:n.1659G>A | ||
| ENST00000568422.6:c.*467G>A | ENSP00000455549.2:n.*467G>A | |
| ENST00000568452.6:n.1461G>A | ||
| ENST00000569430.7:c.1230G>A | ENSP00000454229.1:p.Ala410= | |
| ENST00000628023.3:c.*526G>A | ENSP00000486178.1:n.*526G>A | |
| ENST00000635861.1:c.*882G>A | ENSP00000490034.1:n.*882G>A | |
| ENST00000635887.1:c.1230G>A | ENSP00000490709.1:p.Ala410= | |
| ENST00000635958.1:n.1637G>A | ||
| ENST00000636017.1:c.*754G>A | ENSP00000490538.1:n.*754G>A | |
| ENST00000636078.1:n.1352G>A | ||
| ENST00000636147.2:c.1230G>A MANE Select | ENSP00000490105.1:p.Ala410= | |
| ENST00000636172.1:c.*754G>A | ENSP00000490505.1:n.*754G>A | |
| ENST00000636228.1:c.924G>A | ENSP00000489627.1:p.Ala308= | |
| ENST00000636351.1:n.1124G>A | ||
| ENST00000636503.1:c.*260G>A | ENSP00000489824.1:n.*260G>A | |
| ENST00000636766.1:c.1230G>A | ENSP00000489841.1:p.Ala410= | |
| ENST00000636839.1:n.1726G>A | ||
| ENST00000636853.1:n.2243G>A | ||
| ENST00000636866.1:c.*25G>A | ENSP00000490880.1:n.*25G>A | |
| ENST00000636907.1:n.1381G>A | ||
| ENST00000636977.1:n.2722G>A | ||
| ENST00000637050.1:n.1619G>A | ||
| ENST00000637100.1:c.1006-3341G>A | ENSP00000490394.1:n.1006-3341G>A | |
| ENST00000637107.1:c.*754G>A | ENSP00000490248.1:n.*754G>A | |
| ENST00000637184.1:c.*260G>A | ENSP00000489952.1:n.*260G>A | |
| ENST00000637299.1:c.*1039G>A | ENSP00000489823.1:n.*1039G>A | |
| ENST00000637376.1:c.*260G>A | ENSP00000490758.1:n.*260G>A | |
| ENST00000637378.1:c.228+4502G>A | ENSP00000490831.1:n.228+4502G>A | |
| ENST00000637578.1:c.*754G>A | ENSP00000490206.1:n.*754G>A | |
| ENST00000637699.1:c.1141G>A | ENSP00000490049.1:n.1141G>A | |
| ENST00000637745.1:c.667G>A | ||
| ENST00000637871.1:c.*928G>A | ENSP00000490670.1:n.*928G>A | |
| ENST00000638036.1:c.392G>A | ||
| ENST00000333496.13:c.1158G>A | ENSP00000329171.9:p.Ala386= | |
| ENST00000355477.9:c.*467G>A | ENSP00000347660.6:n.*467G>A | |
| ENST00000357806.11:c.933G>A | ENSP00000350457.7:p.Ala311= | |
| ENST00000357857.13:c.1068G>A | ENSP00000350523.9:p.Ala356= | |
| ENST00000359984.11:c.924G>A | ENSP00000353073.8:p.Ala308= | |
| ENST00000360019.6:c.1230G>A | ENSP00000353116.2:p.Ala410= | |
| ENST00000395653.8:c.930G>A | ENSP00000379014.4:p.Ala310= | |
| ENST00000561689.5:n.1199G>A | ||
| ENST00000563874.5:n.2758G>A | ||
| ENST00000564091.5:c.319G>A | ||
| ENST00000565140.5:c.1138G>A | ENSP00000455342.1:n.1138G>A | |
| ENST00000565316.5:c.1179G>A | ENSP00000456117.1:p.Ala393= | |
| ENST00000565354.5:n.543G>A | ||
| ENST00000566057.5:c.844G>A | ENSP00000456693.1:n.844G>A | |
| ENST00000567963.5:c.939G>A | ENSP00000455387.1:p.Ala313= | |
| ENST00000568076.5:n.1141G>A | ||
| ENST00000568224.4:c.996G>A | ENSP00000454253.1:p.Ala332= | |
| ENST00000568422.5:c.*467G>A | ENSP00000455549.1:n.*467G>A | |
| ENST00000568452.5:n.1358G>A | ||
| ENST00000569030.5:c.1022G>A | ENSP00000454680.1:n.1022G>A | |
| ENST00000569430.5:c.1230G>A | ENSP00000454229.1:p.Ala410= | |
| ENST00000628023.2:c.*526G>A | ENSP00000486178.1:n.*526G>A | |
| ENST00000631023.2:c.939G>A | ENSP00000486616.1:p.Ala313= | |
| NM_000086.2:c.1230G>A , LRG_689t1:c.1230G>A | NP_000077.1:p.Ala410= | |
| NM_001042432.1:c.1230G>A , LRG_689t2:c.1230G>A | NP_001035897.1:p.Ala410= | |
| NM_001286104.1:c.1158G>A | NP_001273033.1:p.Ala386= | |
| NM_001286105.1:c.930G>A | NP_001273034.1:p.Ala310= | |
| NM_001286109.1:c.996G>A | NP_001273038.1:p.Ala332= | |
| NM_001286110.1:c.1068G>A | NP_001273039.1:p.Ala356= | |
| NM_001042432.2:c.1230G>A MANE Select | NP_001035897.1:p.Ala410= | |
| NM_001286104.2:c.1158G>A | NP_001273033.1:p.Ala386= | |
| NM_001286105.2:c.930G>A | NP_001273034.1:p.Ala310= | |
| NM_001286109.2:c.996G>A | NP_001273038.1:p.Ala332= | |
| NM_001286110.2:c.1068G>A | NP_001273039.1:p.Ala356= |