Linked Data
ClinVar Variation Id:
2054922
ClinVar RCV Id:
RCV002933072
dbSNP Id:
rs752894528
ExAC:
16:28493487 G / A
gnomAD v2:
16-28493487-G-A
gnomAD v3:
16-28482166-G-A
gnomAD v4:
16-28482166-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.28482166G>A , CM000678.2:g.28482166G>A | GRCh38 |
| NC_000016.9:g.28493487G>A , CM000678.1:g.28493487G>A | GRCh37 |
| NC_000016.8:g.28400988G>A | NCBI36 |
| NG_008654.2:g.15137C>T , LRG_689:g.15137C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333496.14:c.923C>T | ENSP00000329171.9:p.Ala308Val | |
| ENST00000355477.10:c.851C>T | ENSP00000347660.7:p.Ala284Val | |
| ENST00000357857.14:c.833C>T | ENSP00000350523.9:p.Ala278Val | |
| ENST00000359984.12:c.995C>T | ENSP00000353073.9:p.Ala332Val | |
| ENST00000360019.8:c.923C>T | ENSP00000353116.3:p.Ala308Val | |
| ENST00000395653.9:c.536C>T | ENSP00000379014.5:p.Ala179Val | |
| ENST00000561689.6:n.1408C>T | ||
| ENST00000564091.6:c.335C>T | ENSP00000454466.2:p.Ala112Val | |
| ENST00000565316.6:c.944C>T | ENSP00000456117.1:p.Ala315Val | |
| ENST00000566824.6:n.1055C>T | ||
| ENST00000567963.6:c.833C>T | ENSP00000455387.2:p.Ala278Val | |
| ENST00000568076.6:n.1424C>T | ||
| ENST00000568422.6:c.*232C>T | ENSP00000455549.2:n.*232C>T | |
| ENST00000568452.6:n.1226C>T | ||
| ENST00000568497.6:c.26C>T | ENSP00000456414.2:p.Ala9Val | |
| ENST00000569430.7:c.995C>T | ENSP00000454229.1:p.Ala332Val | |
| ENST00000628023.3:c.*291C>T | ENSP00000486178.1:n.*291C>T | |
| ENST00000635861.1:c.*647C>T | ENSP00000490034.1:n.*647C>T | |
| ENST00000635887.1:c.995C>T | ENSP00000490709.1:p.Ala332Val | |
| ENST00000635958.1:n.1280C>T | ||
| ENST00000635973.1:c.746C>T | ENSP00000490363.1:p.Ala249Val | |
| ENST00000636017.1:c.*519C>T | ENSP00000490538.1:n.*519C>T | |
| ENST00000636078.1:n.1117C>T | ||
| ENST00000636147.2:c.995C>T MANE Select | ENSP00000490105.1:p.Ala332Val | |
| ENST00000636172.1:c.*519C>T | ENSP00000490505.1:n.*519C>T | |
| ENST00000636228.1:c.689C>T | ENSP00000489627.1:p.Ala230Val | |
| ENST00000636351.1:n.889C>T | ||
| ENST00000636503.1:c.995C>T | ENSP00000489824.1:p.Ala332Val | |
| ENST00000636685.1:n.676C>T | ||
| ENST00000636766.1:c.995C>T | ENSP00000489841.1:p.Ala332Val | |
| ENST00000636839.1:n.1369C>T | ||
| ENST00000636853.1:n.1910C>T | ||
| ENST00000636866.1:c.995C>T | ENSP00000490880.1:p.Ala332Val | |
| ENST00000636907.1:n.1146C>T | ||
| ENST00000636977.1:n.2365C>T | ||
| ENST00000637050.1:n.1384C>T | ||
| ENST00000637100.1:c.944C>T | ENSP00000490394.1:p.Ala315Val | |
| ENST00000637107.1:c.*519C>T | ENSP00000490248.1:n.*519C>T | |
| ENST00000637184.1:c.995C>T | ENSP00000489952.1:p.Ala332Val | |
| ENST00000637299.1:c.*804C>T | ENSP00000489823.1:n.*804C>T | |
| ENST00000637376.1:c.995C>T | ENSP00000490758.1:p.Ala332Val | |
| ENST00000637378.1:c.167C>T | ENSP00000490831.1:p.Ala56Val | |
| ENST00000637578.1:c.*519C>T | ENSP00000490206.1:n.*519C>T | |
| ENST00000637699.1:c.906C>T | ENSP00000490049.1:n.906C>T | |
| ENST00000637745.1:c.334C>T | ||
| ENST00000637871.1:c.*693C>T | ENSP00000490670.1:n.*693C>T | |
| ENST00000638036.1:c.157C>T | ||
| ENST00000333496.13:c.923C>T | ENSP00000329171.9:p.Ala308Val | |
| ENST00000355477.9:c.*232C>T | ENSP00000347660.6:n.*232C>T | |
| ENST00000357806.11:c.698C>T | ENSP00000350457.7:p.Ala233Val | |
| ENST00000357857.13:c.833C>T | ENSP00000350523.9:p.Ala278Val | |
| ENST00000359984.11:c.689C>T | ENSP00000353073.8:p.Ala230Val | |
| ENST00000360019.6:c.995C>T | ENSP00000353116.2:p.Ala332Val | |
| ENST00000395653.8:c.695C>T | ENSP00000379014.4:p.Ala232Val | |
| ENST00000561689.5:n.964C>T | ||
| ENST00000563874.5:n.2523C>T | ||
| ENST00000564091.5:c.84C>T | ||
| ENST00000565140.5:c.778C>T | ENSP00000455342.1:n.778C>T | |
| ENST00000565316.5:c.944C>T | ENSP00000456117.1:p.Ala315Val | |
| ENST00000565354.5:n.308C>T | ||
| ENST00000566057.5:c.609C>T | ENSP00000456693.1:n.609C>T | |
| ENST00000567963.5:c.906+311C>T | ENSP00000455387.1:n.906+311C>T | |
| ENST00000568076.5:n.906C>T | ||
| ENST00000568224.4:c.761C>T | ENSP00000454253.1:p.Ala254Val | |
| ENST00000568422.5:c.*232C>T | ENSP00000455549.1:n.*232C>T | |
| ENST00000568452.5:n.1123C>T | ||
| ENST00000568472.5:n.475C>T | ||
| ENST00000568558.5:c.536C>T | ENSP00000455603.1:p.Ala179Val | |
| ENST00000569030.5:c.665C>T | ENSP00000454680.1:p.Ala222Val | |
| ENST00000569430.5:c.995C>T | ENSP00000454229.1:p.Ala332Val | |
| ENST00000628023.2:c.*291C>T | ENSP00000486178.1:n.*291C>T | |
| ENST00000631023.2:c.906+311C>T | ENSP00000486616.1:n.906+311C>T | |
| NM_000086.2:c.995C>T , LRG_689t1:c.995C>T | NP_000077.1:p.Ala332Val | |
| NM_001042432.1:c.995C>T , LRG_689t2:c.995C>T | NP_001035897.1:p.Ala332Val | |
| NM_001286104.1:c.923C>T | NP_001273033.1:p.Ala308Val | |
| NM_001286105.1:c.695C>T | NP_001273034.1:p.Ala232Val | |
| NM_001286109.1:c.761C>T | NP_001273038.1:p.Ala254Val | |
| NM_001286110.1:c.833C>T | NP_001273039.1:p.Ala278Val | |
| NM_001042432.2:c.995C>T MANE Select | NP_001035897.1:p.Ala332Val | |
| NM_001286104.2:c.923C>T | NP_001273033.1:p.Ala308Val | |
| NM_001286105.2:c.695C>T | NP_001273034.1:p.Ala232Val | |
| NM_001286109.2:c.761C>T | NP_001273038.1:p.Ala254Val | |
| NM_001286110.2:c.833C>T | NP_001273039.1:p.Ala278Val |