SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.28484074C>T , CM000678.2:g.28484074C>T | GRCh38 |
| NC_000016.9:g.28495395C>T , CM000678.1:g.28495395C>T | GRCh37 |
| NC_000016.8:g.28402896C>T | NCBI36 |
| NG_008654.2:g.13229G>A , LRG_689:g.13229G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333496.14:c.650G>A | ENSP00000329171.9:p.Gly217Glu | |
| ENST00000355477.10:c.578G>A | ENSP00000347660.7:p.Gly193Glu | |
| ENST00000357857.14:c.560G>A | ENSP00000350523.9:p.Gly187Glu | |
| ENST00000359984.12:c.722G>A | ENSP00000353073.9:p.Gly241Glu | |
| ENST00000360019.8:c.650G>A | ENSP00000353116.3:p.Gly217Glu | |
| ENST00000395653.9:c.263G>A | ENSP00000379014.5:p.Gly88Glu | |
| ENST00000561689.6:n.1007G>A | ||
| ENST00000564091.6:c.62G>A | ENSP00000454466.2:p.Gly21Glu | |
| ENST00000565316.6:c.722G>A | ENSP00000456117.1:p.Gly241Glu | |
| ENST00000565778.6:c.353G>A | ENSP00000458015.1:p.Gly118Glu | |
| ENST00000566083.6:n.1180G>A | ||
| ENST00000566824.6:n.702G>A | ||
| ENST00000567963.6:c.560G>A | ENSP00000455387.2:p.Gly187Glu | |
| ENST00000568076.6:n.849G>A | ||
| ENST00000568422.6:c.505G>A | ENSP00000455549.2:p.Gly169Arg | |
| ENST00000568452.6:n.825G>A | ||
| ENST00000568472.6:n.598G>A | ||
| ENST00000568497.6:c.-248G>A | ENSP00000456414.2:n.-248G>A | |
| ENST00000568558.6:c.425G>A | ENSP00000455603.2:p.Gly142Glu | |
| ENST00000569430.7:c.722G>A | ENSP00000454229.1:p.Gly241Glu | |
| ENST00000628023.3:c.*18G>A | ENSP00000486178.1:n.*18G>A | |
| ENST00000635861.1:c.*246G>A | ENSP00000490034.1:n.*246G>A | |
| ENST00000635887.1:c.722G>A | ENSP00000490709.1:p.Gly241Glu | |
| ENST00000635958.1:n.833G>A | ||
| ENST00000635973.1:c.473G>A | ENSP00000490363.1:p.Gly158Glu | |
| ENST00000636017.1:c.*246G>A | ENSP00000490538.1:n.*246G>A | |
| ENST00000636078.1:n.764G>A | ||
| ENST00000636147.2:c.722G>A MANE Select | ENSP00000490105.1:p.Gly241Glu | |
| ENST00000636172.1:c.*246G>A | ENSP00000490505.1:n.*246G>A | |
| ENST00000636228.1:c.416G>A | ENSP00000489627.1:p.Gly139Glu | |
| ENST00000636351.1:n.442G>A | ||
| ENST00000636503.1:c.722G>A | ENSP00000489824.1:p.Gly241Glu | |
| ENST00000636685.1:n.229G>A | ||
| ENST00000636766.1:c.722G>A | ENSP00000489841.1:p.Gly241Glu | |
| ENST00000636839.1:n.874G>A | ||
| ENST00000636853.1:n.1637G>A | ||
| ENST00000636866.1:c.722G>A | ENSP00000490880.1:p.Gly241Glu | |
| ENST00000636907.1:n.873G>A | ||
| ENST00000636977.1:n.1790G>A | ||
| ENST00000637050.1:n.809G>A | ||
| ENST00000637100.1:c.722G>A | ENSP00000490394.1:p.Gly241Glu | |
| ENST00000637107.1:c.*246G>A | ENSP00000490248.1:n.*246G>A | |
| ENST00000637184.1:c.722G>A | ENSP00000489952.1:p.Gly241Glu | |
| ENST00000637299.1:c.*531G>A | ENSP00000489823.1:n.*531G>A | |
| ENST00000637376.1:c.722G>A | ENSP00000490758.1:p.Gly241Glu | |
| ENST00000637578.1:c.*246G>A | ENSP00000490206.1:n.*246G>A | |
| ENST00000637699.1:c.505G>A | ENSP00000490049.1:p.Gly169Arg | |
| ENST00000637745.1:c.61G>A | ||
| ENST00000637871.1:c.*246G>A | ENSP00000490670.1:n.*246G>A | |
| ENST00000333496.13:c.650G>A | ENSP00000329171.9:p.Gly217Glu | |
| ENST00000355477.9:c.505G>A | ENSP00000347660.6:p.Gly169Arg | |
| ENST00000357806.11:c.425G>A | ENSP00000350457.7:p.Gly142Glu | |
| ENST00000357857.13:c.560G>A | ENSP00000350523.9:p.Gly187Glu | |
| ENST00000359984.11:c.416G>A | ENSP00000353073.8:p.Gly139Glu | |
| ENST00000360019.6:c.722G>A | ENSP00000353116.2:p.Gly241Glu | |
| ENST00000395653.8:c.422G>A | ENSP00000379014.4:p.Gly141Glu | |
| ENST00000561689.5:n.563G>A | ||
| ENST00000563874.5:n.2076G>A | ||
| ENST00000564574.5:n.770G>A | ||
| ENST00000565047.1:n.316G>A | ||
| ENST00000565140.5:c.505G>A | ENSP00000455342.1:p.Gly169Arg | |
| ENST00000565316.5:c.722G>A | ENSP00000456117.1:p.Gly241Glu | |
| ENST00000565688.5:c.473G>A | ENSP00000456122.1:p.Gly158Glu | |
| ENST00000565778.5:c.353G>A | ENSP00000458015.1:p.Gly118Glu | |
| ENST00000566057.5:c.336G>A | ENSP00000456693.1:n.336G>A | |
| ENST00000566083.5:n.953G>A | ||
| ENST00000566824.5:n.771G>A | ||
| ENST00000567495.5:c.505G>A | ENSP00000456013.1:p.Gly169Arg | |
| ENST00000567963.5:c.722G>A | ENSP00000455387.1:p.Gly241Glu | |
| ENST00000568076.5:n.505G>A | ||
| ENST00000568224.4:c.488G>A | ENSP00000454253.1:p.Gly163Glu | |
| ENST00000568422.5:c.358G>A | ENSP00000455549.1:p.Gly120Arg | |
| ENST00000568452.5:n.722G>A | ||
| ENST00000568472.5:n.202G>A | ||
| ENST00000568497.5:c.*18G>A | ENSP00000456414.1:n.*18G>A | |
| ENST00000568558.5:c.263G>A | ENSP00000455603.1:p.Gly88Glu | |
| ENST00000569030.5:c.461-1402G>A | ENSP00000454680.1:n.461-1402G>A | |
| ENST00000569430.5:c.722G>A | ENSP00000454229.1:p.Gly241Glu | |
| ENST00000628023.2:c.*18G>A | ENSP00000486178.1:n.*18G>A | |
| ENST00000631023.2:c.722G>A | ENSP00000486616.1:p.Gly241Glu | |
| NM_000086.2:c.722G>A , LRG_689t1:c.722G>A | NP_000077.1:p.Gly241Glu | |
| NM_001042432.1:c.722G>A , LRG_689t2:c.722G>A | NP_001035897.1:p.Gly241Glu | |
| NM_001286104.1:c.650G>A | NP_001273033.1:p.Gly217Glu | |
| NM_001286105.1:c.422G>A | NP_001273034.1:p.Gly141Glu | |
| NM_001286109.1:c.488G>A | NP_001273038.1:p.Gly163Glu | |
| NM_001286110.1:c.560G>A | NP_001273039.1:p.Gly187Glu | |
| NM_001042432.2:c.722G>A MANE Select | NP_001035897.1:p.Gly241Glu | |
| NM_001286104.2:c.650G>A | NP_001273033.1:p.Gly217Glu | |
| NM_001286105.2:c.422G>A | NP_001273034.1:p.Gly141Glu | |
| NM_001286109.2:c.488G>A | NP_001273038.1:p.Gly163Glu | |
| NM_001286110.2:c.560G>A | NP_001273039.1:p.Gly187Glu |