Linked Data
ClinVar Variation Id:
450528
dbSNP Id:
rs778484981
ExAC:
16:2138583 C / T
gnomAD v2:
16-2138583-C-T
gnomAD v4:
16-2088582-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2088582C>T , CM000678.2:g.2088582C>T | GRCh38 |
| NC_000016.9:g.2138583C>T , CM000678.1:g.2138583C>T | GRCh37 |
| NC_000016.8:g.2078584C>T | NCBI36 |
| NG_005895.1:g.44277C>T , LRG_487:g.44277C>T | |
| NG_008617.1:g.54639G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000568566.6:c.*3745C>T | ENSP00000455997.2:n.*3745C>T | |
| ENST00000642206.2:c.5243C>T | ENSP00000495146.2:p.Ser1748Leu | |
| ENST00000642365.2:c.5393C>T | ENSP00000495459.2:p.Ser1798Leu | |
| ENST00000644417.2:c.*5909C>T | ENSP00000493912.2:n.*5909C>T | |
| ENST00000646464.2:c.*8145C>T | ENSP00000496610.2:n.*8145C>T | |
| ENST00000219476.9:c.5396C>T MANE Select | ENSP00000219476.3:p.Ser1799Leu | |
| ENST00000350773.9:c.5327C>T | ENSP00000344383.4:p.Ser1776Leu | |
| ENST00000401874.7:c.5195C>T | ENSP00000384468.2:p.Ser1732Leu | |
| ENST00000568454.6:c.5228C>T | ENSP00000454487.1:p.Ser1743Leu | |
| ENST00000569110.2:c.1619C>T | ||
| ENST00000569930.2:n.3278C>T | ||
| ENST00000642365.1:c.4050C>T | ||
| ENST00000642561.1:c.5255C>T | ENSP00000495099.1:p.Ser1752Leu | |
| ENST00000642791.1:n.993C>T | ||
| ENST00000642797.1:c.5198C>T | ENSP00000493846.1:p.Ser1733Leu | |
| ENST00000642936.1:c.5264C>T | ENSP00000494514.1:p.Ser1755Leu | |
| ENST00000643088.1:c.5189C>T | ENSP00000494747.1:p.Ser1730Leu | |
| ENST00000643426.1:n.3044C>T | ||
| ENST00000643946.1:c.5321C>T | ENSP00000495927.1:p.Ser1774Leu | |
| ENST00000644043.1:c.5267C>T | ENSP00000496262.1:p.Ser1756Leu | |
| ENST00000644329.1:c.5282C>T | ENSP00000496611.1:p.Ser1761Leu | |
| ENST00000644335.1:c.5192C>T | ENSP00000496317.1:p.Ser1731Leu | |
| ENST00000644399.1:c.5317C>T | ||
| ENST00000646388.1:c.5390C>T | ENSP00000495921.1:p.Ser1797Leu | |
| ENST00000646634.1:n.4211C>T | ||
| ENST00000646674.1:n.2648C>T | ||
| ENST00000647042.1:n.2619C>T | ||
| ENST00000647180.1:n.2509C>T | ||
| ENST00000219476.7:c.5396C>T | ENSP00000219476.3:p.Ser1799Leu | |
| ENST00000350773.8:c.5327C>T | ENSP00000344383.4:p.Ser1776Leu | |
| ENST00000382538.10:c.5051C>T | ENSP00000371978.6:p.Ser1684Leu | |
| ENST00000401874.6:c.5195C>T | ENSP00000384468.2:p.Ser1732Leu | |
| ENST00000439117.6:c.*4563C>T | ENSP00000406980.2:n.*4563C>T | |
| ENST00000439673.6:c.5087C>T | ENSP00000399232.2:p.Ser1696Leu | |
| ENST00000497886.5:n.3119C>T | ||
| ENST00000568454.5:c.5228C>T | ENSP00000454487.1:p.Ser1743Leu | |
| ENST00000569110.1:c.1578C>T | ||
| ENST00000569930.1:n.2511C>T | ||
| NM_000548.3:c.5396C>T , LRG_487t1:c.5396C>T | NP_000539.2:p.Ser1799Leu | |
| NM_001077183.1:c.5195C>T | NP_001070651.1:p.Ser1732Leu | |
| NM_001114382.1:c.5327C>T | NP_001107854.1:p.Ser1776Leu | |
| XM_005255529.3:c.5267C>T | XP_005255586.2:p.Ser1756Leu | |
| XM_005255531.3:c.5198C>T | XP_005255588.2:p.Ser1733Leu | |
| XM_011522636.1:c.5450C>T | XP_011520938.1:p.Ser1817Leu | |
| XM_011522637.1:c.5447C>T | XP_011520939.1:p.Ser1816Leu | |
| XM_011522638.1:c.5339C>T | XP_011520940.1:p.Ser1780Leu | |
| XM_011522639.1:c.5321C>T | XP_011520941.1:p.Ser1774Leu | |
| XM_011522640.1:c.5318C>T | XP_011520942.1:p.Ser1773Leu | |
| XM_011522641.1:c.5087C>T | XP_011520943.1:p.Ser1696Leu | |
| NM_000548.4:c.5396C>T | NP_000539.2:p.Ser1799Leu | |
| NM_001077183.2:c.5195C>T | NP_001070651.1:p.Ser1732Leu | |
| NM_001114382.2:c.5327C>T | NP_001107854.1:p.Ser1776Leu | |
| NM_001318827.1:c.5087C>T | NP_001305756.1:p.Ser1696Leu | |
| NM_001318829.1:c.5051C>T | NP_001305758.1:p.Ser1684Leu | |
| NM_001318831.1:c.4664C>T | NP_001305760.1:p.Ser1555Leu | |
| NM_001318832.1:c.5228C>T | NP_001305761.1:p.Ser1743Leu | |
| NM_001363528.1:c.5198C>T | NP_001350457.1:p.Ser1733Leu | |
| NM_021055.2:c.5267C>T | NP_066399.2:p.Ser1756Leu | |
| XM_005255531.4:c.5198C>T | XP_005255588.2:p.Ser1733Leu | |
| XM_011522636.2:c.5450C>T | XP_011520938.1:p.Ser1817Leu | |
| XM_011522637.2:c.5447C>T | XP_011520939.1:p.Ser1816Leu | |
| XM_011522638.2:c.5612C>T | XP_011520940.2:p.Ser1871Leu | |
| XM_011522639.2:c.5321C>T | XP_011520941.1:p.Ser1774Leu | |
| XM_011522640.2:c.5318C>T | XP_011520942.1:p.Ser1773Leu | |
| XM_017023615.1:c.5393C>T | XP_016879104.1:p.Ser1798Leu | |
| XM_017023616.1:c.5264C>T | XP_016879105.1:p.Ser1755Leu | |
| XM_017023617.1:c.5360C>T | XP_016879106.1:p.Ser1787Leu | |
| XM_017023618.1:c.4106C>T | XP_016879107.1:p.Ser1369Leu | |
| XM_024450413.1:c.5282C>T | XP_024306181.1:p.Ser1761Leu | |
| NM_000548.5:c.5396C>T MANE Select | NP_000539.2:p.Ser1799Leu | |
| NM_001370404.1:c.5264C>T | NP_001357333.1:p.Ser1755Leu | |
| NM_001370405.1:c.5255C>T | NP_001357334.1:p.Ser1752Leu | |
| NM_001077183.3:c.5195C>T | NP_001070651.1:p.Ser1732Leu | |
| NM_001114382.3:c.5327C>T | NP_001107854.1:p.Ser1776Leu | |
| NM_001318827.2:c.5087C>T | NP_001305756.1:p.Ser1696Leu | |
| NM_001318829.2:c.5051C>T | NP_001305758.1:p.Ser1684Leu | |
| NM_001318831.2:c.4664C>T | NP_001305760.1:p.Ser1555Leu | |
| NM_001318832.2:c.5228C>T | NP_001305761.1:p.Ser1743Leu | |
| NM_001363528.2:c.5198C>T | NP_001350457.1:p.Ser1733Leu | |
| NM_021055.3:c.5267C>T | NP_066399.2:p.Ser1756Leu |