Linked Data
dbSNP Id:
rs779370547
ExAC:
16:28493512 T / C
gnomAD v2:
16-28493512-T-C
gnomAD v4:
16-28482191-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.28482191T>C , CM000678.2:g.28482191T>C | GRCh38 |
| NC_000016.9:g.28493512T>C , CM000678.1:g.28493512T>C | GRCh37 |
| NC_000016.8:g.28401013T>C | NCBI36 |
| NG_008654.2:g.15112A>G , LRG_689:g.15112A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333496.14:c.898A>G | ENSP00000329171.9:p.Met300Val | |
| ENST00000355477.10:c.826A>G | ENSP00000347660.7:p.Met276Val | |
| ENST00000357857.14:c.808A>G | ENSP00000350523.9:p.Met270Val | |
| ENST00000359984.12:c.970A>G | ENSP00000353073.9:p.Met324Val | |
| ENST00000360019.8:c.898A>G | ENSP00000353116.3:p.Met300Val | |
| ENST00000395653.9:c.511A>G | ENSP00000379014.5:p.Met171Val | |
| ENST00000561689.6:n.1383A>G | ||
| ENST00000564091.6:c.310A>G | ENSP00000454466.2:p.Met104Val | |
| ENST00000565316.6:c.919A>G | ENSP00000456117.1:p.Met307Val | |
| ENST00000566824.6:n.1030A>G | ||
| ENST00000567963.6:c.808A>G | ENSP00000455387.2:p.Met270Val | |
| ENST00000568076.6:n.1399A>G | ||
| ENST00000568422.6:c.*207A>G | ENSP00000455549.2:n.*207A>G | |
| ENST00000568452.6:n.1201A>G | ||
| ENST00000568497.6:c.1A>G | ENSP00000456414.2:p.Met1Val | |
| ENST00000569430.7:c.970A>G | ENSP00000454229.1:p.Met324Val | |
| ENST00000628023.3:c.*266A>G | ENSP00000486178.1:n.*266A>G | |
| ENST00000635861.1:c.*622A>G | ENSP00000490034.1:n.*622A>G | |
| ENST00000635887.1:c.970A>G | ENSP00000490709.1:p.Met324Val | |
| ENST00000635958.1:n.1255A>G | ||
| ENST00000635973.1:c.721A>G | ENSP00000490363.1:p.Met241Val | |
| ENST00000636017.1:c.*494A>G | ENSP00000490538.1:n.*494A>G | |
| ENST00000636078.1:n.1092A>G | ||
| ENST00000636147.2:c.970A>G MANE Select | ENSP00000490105.1:p.Met324Val | |
| ENST00000636172.1:c.*494A>G | ENSP00000490505.1:n.*494A>G | |
| ENST00000636228.1:c.664A>G | ENSP00000489627.1:p.Met222Val | |
| ENST00000636351.1:n.864A>G | ||
| ENST00000636503.1:c.970A>G | ENSP00000489824.1:p.Met324Val | |
| ENST00000636685.1:n.651A>G | ||
| ENST00000636766.1:c.970A>G | ENSP00000489841.1:p.Met324Val | |
| ENST00000636839.1:n.1344A>G | ||
| ENST00000636853.1:n.1885A>G | ||
| ENST00000636866.1:c.970A>G | ENSP00000490880.1:p.Met324Val | |
| ENST00000636907.1:n.1121A>G | ||
| ENST00000636977.1:n.2340A>G | ||
| ENST00000637050.1:n.1359A>G | ||
| ENST00000637100.1:c.919A>G | ENSP00000490394.1:p.Met307Val | |
| ENST00000637107.1:c.*494A>G | ENSP00000490248.1:n.*494A>G | |
| ENST00000637184.1:c.970A>G | ENSP00000489952.1:p.Met324Val | |
| ENST00000637299.1:c.*779A>G | ENSP00000489823.1:n.*779A>G | |
| ENST00000637376.1:c.970A>G | ENSP00000490758.1:p.Met324Val | |
| ENST00000637378.1:c.142A>G | ENSP00000490831.1:p.Met48Val | |
| ENST00000637578.1:c.*494A>G | ENSP00000490206.1:n.*494A>G | |
| ENST00000637699.1:c.881A>G | ENSP00000490049.1:n.881A>G | |
| ENST00000637745.1:c.309A>G | ||
| ENST00000637871.1:c.*668A>G | ENSP00000490670.1:n.*668A>G | |
| ENST00000638036.1:c.132A>G | ||
| ENST00000333496.13:c.898A>G | ENSP00000329171.9:p.Met300Val | |
| ENST00000355477.9:c.*207A>G | ENSP00000347660.6:n.*207A>G | |
| ENST00000357806.11:c.673A>G | ENSP00000350457.7:p.Met225Val | |
| ENST00000357857.13:c.808A>G | ENSP00000350523.9:p.Met270Val | |
| ENST00000359984.11:c.664A>G | ENSP00000353073.8:p.Met222Val | |
| ENST00000360019.6:c.970A>G | ENSP00000353116.2:p.Met324Val | |
| ENST00000395653.8:c.670A>G | ENSP00000379014.4:p.Met224Val | |
| ENST00000561689.5:n.939A>G | ||
| ENST00000563874.5:n.2498A>G | ||
| ENST00000564091.5:c.59A>G | ||
| ENST00000564574.5:n.1146A>G | ||
| ENST00000565140.5:c.753A>G | ENSP00000455342.1:n.753A>G | |
| ENST00000565316.5:c.919A>G | ENSP00000456117.1:p.Met307Val | |
| ENST00000565354.5:n.283A>G | ||
| ENST00000566057.5:c.584A>G | ENSP00000456693.1:n.584A>G | |
| ENST00000567963.5:c.906+286A>G | ENSP00000455387.1:n.906+286A>G | |
| ENST00000568076.5:n.881A>G | ||
| ENST00000568224.4:c.736A>G | ENSP00000454253.1:p.Met246Val | |
| ENST00000568422.5:c.*207A>G | ENSP00000455549.1:n.*207A>G | |
| ENST00000568452.5:n.1098A>G | ||
| ENST00000568472.5:n.450A>G | ||
| ENST00000568558.5:c.511A>G | ENSP00000455603.1:p.Met171Val | |
| ENST00000569030.5:c.640A>G | ENSP00000454680.1:p.Met214Val | |
| ENST00000569430.5:c.970A>G | ENSP00000454229.1:p.Met324Val | |
| ENST00000628023.2:c.*266A>G | ENSP00000486178.1:n.*266A>G | |
| ENST00000631023.2:c.906+286A>G | ENSP00000486616.1:n.906+286A>G | |
| NM_000086.2:c.970A>G , LRG_689t1:c.970A>G | NP_000077.1:p.Met324Val | |
| NM_001042432.1:c.970A>G , LRG_689t2:c.970A>G | NP_001035897.1:p.Met324Val | |
| NM_001286104.1:c.898A>G | NP_001273033.1:p.Met300Val | |
| NM_001286105.1:c.670A>G | NP_001273034.1:p.Met224Val | |
| NM_001286109.1:c.736A>G | NP_001273038.1:p.Met246Val | |
| NM_001286110.1:c.808A>G | NP_001273039.1:p.Met270Val | |
| NM_001042432.2:c.970A>G MANE Select | NP_001035897.1:p.Met324Val | |
| NM_001286104.2:c.898A>G | NP_001273033.1:p.Met300Val | |
| NM_001286105.2:c.670A>G | NP_001273034.1:p.Met224Val | |
| NM_001286109.2:c.736A>G | NP_001273038.1:p.Met246Val | |
| NM_001286110.2:c.808A>G | NP_001273039.1:p.Met270Val |