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.
Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.28484081G>T , CM000678.2:g.28484081G>T | GRCh38 |
| NC_000016.9:g.28495402G>T , CM000678.1:g.28495402G>T | GRCh37 |
| NC_000016.8:g.28402903G>T | NCBI36 |
| NG_008654.2:g.13222C>A , LRG_689:g.13222C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333496.14:c.643C>A | ENSP00000329171.9:p.Pro215Thr | |
| ENST00000355477.10:c.571C>A | ENSP00000347660.7:p.Pro191Thr | |
| ENST00000357857.14:c.553C>A | ENSP00000350523.9:p.Pro185Thr | |
| ENST00000359984.12:c.715C>A | ENSP00000353073.9:p.Pro239Thr | |
| ENST00000360019.8:c.643C>A | ENSP00000353116.3:p.Pro215Thr | |
| ENST00000395653.9:c.256C>A | ENSP00000379014.5:p.Pro86Thr | |
| ENST00000561689.6:n.1000C>A | ||
| ENST00000564091.6:c.55C>A | ENSP00000454466.2:p.Pro19Thr | |
| ENST00000565316.6:c.715C>A | ENSP00000456117.1:p.Pro239Thr | |
| ENST00000565778.6:c.346C>A | ENSP00000458015.1:p.Pro116Thr | |
| ENST00000566083.6:n.1173C>A | ||
| ENST00000566824.6:n.695C>A | ||
| ENST00000567495.6:c.*174C>A | ENSP00000456013.2:n.*174C>A | |
| ENST00000567963.6:c.553C>A | ENSP00000455387.2:p.Pro185Thr | |
| ENST00000568076.6:n.842C>A | ||
| ENST00000568422.6:c.498C>A | ENSP00000455549.2:p.Thr166= | |
| ENST00000568452.6:n.818C>A | ||
| ENST00000568472.6:n.591C>A | ||
| ENST00000568497.6:c.-255C>A | ENSP00000456414.2:n.-255C>A | |
| ENST00000568558.6:c.418C>A | ENSP00000455603.2:p.Pro140Thr | |
| ENST00000569430.7:c.715C>A | ENSP00000454229.1:p.Pro239Thr | |
| ENST00000628023.3:c.*11C>A | ENSP00000486178.1:n.*11C>A | |
| ENST00000635861.1:c.*239C>A | ENSP00000490034.1:n.*239C>A | |
| ENST00000635887.1:c.715C>A | ENSP00000490709.1:p.Pro239Thr | |
| ENST00000635958.1:n.826C>A | ||
| ENST00000635973.1:c.466C>A | ENSP00000490363.1:p.Pro156Thr | |
| ENST00000636017.1:c.*239C>A | ENSP00000490538.1:n.*239C>A | |
| ENST00000636078.1:n.757C>A | ||
| ENST00000636147.2:c.715C>A MANE Select | ENSP00000490105.1:p.Pro239Thr | |
| ENST00000636172.1:c.*239C>A | ENSP00000490505.1:n.*239C>A | |
| ENST00000636228.1:c.409C>A | ENSP00000489627.1:p.Pro137Thr | |
| ENST00000636351.1:n.435C>A | ||
| ENST00000636503.1:c.715C>A | ENSP00000489824.1:p.Pro239Thr | |
| ENST00000636685.1:n.222C>A | ||
| ENST00000636766.1:c.715C>A | ENSP00000489841.1:p.Pro239Thr | |
| ENST00000636839.1:n.867C>A | ||
| ENST00000636853.1:n.1630C>A | ||
| ENST00000636866.1:c.715C>A | ENSP00000490880.1:p.Pro239Thr | |
| ENST00000636907.1:n.866C>A | ||
| ENST00000636977.1:n.1783C>A | ||
| ENST00000637050.1:n.802C>A | ||
| ENST00000637100.1:c.715C>A | ENSP00000490394.1:p.Pro239Thr | |
| ENST00000637107.1:c.*239C>A | ENSP00000490248.1:n.*239C>A | |
| ENST00000637184.1:c.715C>A | ENSP00000489952.1:p.Pro239Thr | |
| ENST00000637299.1:c.*524C>A | ENSP00000489823.1:n.*524C>A | |
| ENST00000637376.1:c.715C>A | ENSP00000490758.1:p.Pro239Thr | |
| ENST00000637578.1:c.*239C>A | ENSP00000490206.1:n.*239C>A | |
| ENST00000637699.1:c.498C>A | ENSP00000490049.1:p.Thr166= | |
| ENST00000637745.1:c.54C>A | ||
| ENST00000637871.1:c.*239C>A | ENSP00000490670.1:n.*239C>A | |
| ENST00000333496.13:c.643C>A | ENSP00000329171.9:p.Pro215Thr | |
| ENST00000355477.9:c.498C>A | ENSP00000347660.6:p.Thr166= | |
| ENST00000357806.11:c.418C>A | ENSP00000350457.7:p.Pro140Thr | |
| ENST00000357857.13:c.553C>A | ENSP00000350523.9:p.Pro185Thr | |
| ENST00000359984.11:c.409C>A | ENSP00000353073.8:p.Pro137Thr | |
| ENST00000360019.6:c.715C>A | ENSP00000353116.2:p.Pro239Thr | |
| ENST00000395653.8:c.415C>A | ENSP00000379014.4:p.Pro139Thr | |
| ENST00000561689.5:n.556C>A | ||
| ENST00000563874.5:n.2069C>A | ||
| ENST00000564574.5:n.763C>A | ||
| ENST00000565047.1:n.309C>A | ||
| ENST00000565140.5:c.498C>A | ENSP00000455342.1:p.Thr166= | |
| ENST00000565316.5:c.715C>A | ENSP00000456117.1:p.Pro239Thr | |
| ENST00000565688.5:c.466C>A | ENSP00000456122.1:p.Pro156Thr | |
| ENST00000565778.5:c.346C>A | ENSP00000458015.1:p.Pro116Thr | |
| ENST00000566057.5:c.329C>A | ENSP00000456693.1:n.329C>A | |
| ENST00000566083.5:n.946C>A | ||
| ENST00000566824.5:n.764C>A | ||
| ENST00000567495.5:c.498C>A | ENSP00000456013.1:p.Thr166= | |
| ENST00000567963.5:c.715C>A | ENSP00000455387.1:p.Pro239Thr | |
| ENST00000568076.5:n.498C>A | ||
| ENST00000568224.4:c.481C>A | ENSP00000454253.1:p.Pro161Thr | |
| ENST00000568422.5:c.351C>A | ENSP00000455549.1:p.Thr117= | |
| ENST00000568452.5:n.715C>A | ||
| ENST00000568472.5:n.195C>A | ||
| ENST00000568497.5:c.*11C>A | ENSP00000456414.1:n.*11C>A | |
| ENST00000568558.5:c.256C>A | ENSP00000455603.1:p.Pro86Thr | |
| ENST00000569030.5:c.461-1409C>A | ENSP00000454680.1:n.461-1409C>A | |
| ENST00000569430.5:c.715C>A | ENSP00000454229.1:p.Pro239Thr | |
| ENST00000628023.2:c.*11C>A | ENSP00000486178.1:n.*11C>A | |
| ENST00000631023.2:c.715C>A | ENSP00000486616.1:p.Pro239Thr | |
| NM_000086.2:c.715C>A , LRG_689t1:c.715C>A | NP_000077.1:p.Pro239Thr | |
| NM_001042432.1:c.715C>A , LRG_689t2:c.715C>A | NP_001035897.1:p.Pro239Thr | |
| NM_001286104.1:c.643C>A | NP_001273033.1:p.Pro215Thr | |
| NM_001286105.1:c.415C>A | NP_001273034.1:p.Pro139Thr | |
| NM_001286109.1:c.481C>A | NP_001273038.1:p.Pro161Thr | |
| NM_001286110.1:c.553C>A | NP_001273039.1:p.Pro185Thr | |
| NM_001042432.2:c.715C>A MANE Select | NP_001035897.1:p.Pro239Thr | |
| NM_001286104.2:c.643C>A | NP_001273033.1:p.Pro215Thr | |
| NM_001286105.2:c.415C>A | NP_001273034.1:p.Pro139Thr | |
| NM_001286109.2:c.481C>A | NP_001273038.1:p.Pro161Thr | |
| NM_001286110.2:c.553C>A | NP_001273039.1:p.Pro185Thr |