Linked Data
dbSNP Id:
rs747068998
ExAC:
16:28495436 A / G
gnomAD v2:
16-28495436-A-G
gnomAD v4:
16-28484115-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.28484115A>G , CM000678.2:g.28484115A>G | GRCh38 |
| NC_000016.9:g.28495436A>G , CM000678.1:g.28495436A>G | GRCh37 |
| NC_000016.8:g.28402937A>G | NCBI36 |
| NG_008654.2:g.13188T>C , LRG_689:g.13188T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333496.14:c.609T>C | ENSP00000329171.9:p.Tyr203= | |
| ENST00000355477.10:c.537T>C | ENSP00000347660.7:p.Tyr179= | |
| ENST00000357857.14:c.519T>C | ENSP00000350523.9:p.Tyr173= | |
| ENST00000359984.12:c.681T>C | ENSP00000353073.9:p.Tyr227= | |
| ENST00000360019.8:c.609T>C | ENSP00000353116.3:p.Tyr203= | |
| ENST00000395653.9:c.222T>C | ENSP00000379014.5:p.Tyr74= | |
| ENST00000561689.6:n.966T>C | ||
| ENST00000564091.6:c.21T>C | ENSP00000454466.2:p.Tyr7= | |
| ENST00000565316.6:c.681T>C | ENSP00000456117.1:p.Tyr227= | |
| ENST00000565778.6:c.312T>C | ENSP00000458015.1:p.Tyr104= | |
| ENST00000566083.6:n.1139T>C | ||
| ENST00000566824.6:n.661T>C | ||
| ENST00000567495.6:c.*140T>C | ENSP00000456013.2:n.*140T>C | |
| ENST00000567963.6:c.519T>C | ENSP00000455387.2:p.Tyr173= | |
| ENST00000568076.6:n.808T>C | ||
| ENST00000568422.6:c.464T>C | ENSP00000455549.2:p.Ile155Thr | |
| ENST00000568452.6:n.784T>C | ||
| ENST00000568472.6:n.557T>C | ||
| ENST00000568497.6:c.-289T>C | ENSP00000456414.2:n.-289T>C | |
| ENST00000568558.6:c.384T>C | ENSP00000455603.2:p.Tyr128= | |
| ENST00000569430.7:c.681T>C | ENSP00000454229.1:p.Tyr227= | |
| ENST00000628023.3:c.226T>C | ENSP00000486178.1:p.Phe76Leu | |
| ENST00000635861.1:c.*205T>C | ENSP00000490034.1:n.*205T>C | |
| ENST00000635887.1:c.681T>C | ENSP00000490709.1:p.Tyr227= | |
| ENST00000635958.1:n.792T>C | ||
| ENST00000635973.1:c.432T>C | ENSP00000490363.1:p.Tyr144= | |
| ENST00000636017.1:c.*205T>C | ENSP00000490538.1:n.*205T>C | |
| ENST00000636078.1:n.723T>C | ||
| ENST00000636147.2:c.681T>C MANE Select | ENSP00000490105.1:p.Tyr227= | |
| ENST00000636172.1:c.*205T>C | ENSP00000490505.1:n.*205T>C | |
| ENST00000636228.1:c.375T>C | ENSP00000489627.1:p.Tyr125= | |
| ENST00000636351.1:n.401T>C | ||
| ENST00000636503.1:c.681T>C | ENSP00000489824.1:p.Tyr227= | |
| ENST00000636685.1:n.188T>C | ||
| ENST00000636766.1:c.681T>C | ENSP00000489841.1:p.Tyr227= | |
| ENST00000636839.1:n.833T>C | ||
| ENST00000636853.1:n.1596T>C | ||
| ENST00000636866.1:c.681T>C | ENSP00000490880.1:p.Tyr227= | |
| ENST00000636907.1:n.832T>C | ||
| ENST00000636977.1:n.1749T>C | ||
| ENST00000637050.1:n.768T>C | ||
| ENST00000637100.1:c.681T>C | ENSP00000490394.1:p.Tyr227= | |
| ENST00000637107.1:c.*205T>C | ENSP00000490248.1:n.*205T>C | |
| ENST00000637184.1:c.681T>C | ENSP00000489952.1:p.Tyr227= | |
| ENST00000637299.1:c.*490T>C | ENSP00000489823.1:n.*490T>C | |
| ENST00000637376.1:c.681T>C | ENSP00000490758.1:p.Tyr227= | |
| ENST00000637578.1:c.*205T>C | ENSP00000490206.1:n.*205T>C | |
| ENST00000637699.1:c.464T>C | ENSP00000490049.1:p.Ile155Thr | |
| ENST00000637745.1:c.20T>C | ||
| ENST00000637871.1:c.*205T>C | ENSP00000490670.1:n.*205T>C | |
| ENST00000333496.13:c.609T>C | ENSP00000329171.9:p.Tyr203= | |
| ENST00000355477.9:c.464T>C | ENSP00000347660.6:p.Ile155Thr | |
| ENST00000357806.11:c.384T>C | ENSP00000350457.7:p.Tyr128= | |
| ENST00000357857.13:c.519T>C | ENSP00000350523.9:p.Tyr173= | |
| ENST00000359984.11:c.375T>C | ENSP00000353073.8:p.Tyr125= | |
| ENST00000360019.6:c.681T>C | ENSP00000353116.2:p.Tyr227= | |
| ENST00000395653.8:c.381T>C | ENSP00000379014.4:p.Tyr127= | |
| ENST00000561689.5:n.522T>C | ||
| ENST00000563874.5:n.2035T>C | ||
| ENST00000564574.5:n.729T>C | ||
| ENST00000565047.1:n.275T>C | ||
| ENST00000565140.5:c.464T>C | ENSP00000455342.1:p.Ile155Thr | |
| ENST00000565316.5:c.681T>C | ENSP00000456117.1:p.Tyr227= | |
| ENST00000565688.5:c.432T>C | ENSP00000456122.1:p.Tyr144= | |
| ENST00000565778.5:c.312T>C | ENSP00000458015.1:p.Tyr104= | |
| ENST00000566057.5:c.295T>C | ENSP00000456693.1:p.Phe99Leu | |
| ENST00000566083.5:n.912T>C | ||
| ENST00000566824.5:n.730T>C | ||
| ENST00000567495.5:c.464T>C | ENSP00000456013.1:p.Ile155Thr | |
| ENST00000567963.5:c.681T>C | ENSP00000455387.1:p.Tyr227= | |
| ENST00000568076.5:n.464T>C | ||
| ENST00000568224.4:c.447T>C | ENSP00000454253.1:p.Tyr149= | |
| ENST00000568422.5:c.317T>C | ENSP00000455549.1:p.Ile106Thr | |
| ENST00000568452.5:n.681T>C | ||
| ENST00000568472.5:n.161T>C | ||
| ENST00000568497.5:c.226T>C | ENSP00000456414.1:p.Phe76Leu | |
| ENST00000568558.5:c.222T>C | ENSP00000455603.1:p.Tyr74= | |
| ENST00000569030.5:c.461-1443T>C | ENSP00000454680.1:n.461-1443T>C | |
| ENST00000569430.5:c.681T>C | ENSP00000454229.1:p.Tyr227= | |
| ENST00000628023.2:c.226T>C | ENSP00000486178.1:p.Phe76Leu | |
| ENST00000631023.2:c.681T>C | ENSP00000486616.1:p.Tyr227= | |
| NM_000086.2:c.681T>C , LRG_689t1:c.681T>C | NP_000077.1:p.Tyr227= | |
| NM_001042432.1:c.681T>C , LRG_689t2:c.681T>C | NP_001035897.1:p.Tyr227= | |
| NM_001286104.1:c.609T>C | NP_001273033.1:p.Tyr203= | |
| NM_001286105.1:c.381T>C | NP_001273034.1:p.Tyr127= | |
| NM_001286109.1:c.447T>C | NP_001273038.1:p.Tyr149= | |
| NM_001286110.1:c.519T>C | NP_001273039.1:p.Tyr173= | |
| NM_001042432.2:c.681T>C MANE Select | NP_001035897.1:p.Tyr227= | |
| NM_001286104.2:c.609T>C | NP_001273033.1:p.Tyr203= | |
| NM_001286105.2:c.381T>C | NP_001273034.1:p.Tyr127= | |
| NM_001286109.2:c.447T>C | NP_001273038.1:p.Tyr149= | |
| NM_001286110.2:c.519T>C | NP_001273039.1:p.Tyr173= |