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_000023.11:g.31178714C>T , CM000685.2:g.31178714C>T | GRCh38 |
| NC_000023.10:g.31196831C>T , CM000685.1:g.31196831C>T | GRCh37 |
| NC_000023.9:g.31106752C>T | NCBI36 |
| NG_012232.1:g.2165896G>A , LRG_199:g.2165896G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358062.7:c.5024G>A | ENSP00000350765.3:p.Gly1675Asp | |
| ENST00000475732.3:n.2525G>A | ||
| ENST00000680162.2:c.974G>A | ENSP00000506634.2:p.Gly325Asp | |
| ENST00000680768.2:c.974G>A | ENSP00000506359.2:p.Gly325Asp | |
| ENST00000681989.1:n.976G>A | ||
| ENST00000682238.1:c.2798G>A | ENSP00000508124.1:p.Gly933Asp | |
| ENST00000682322.1:c.974G>A | ENSP00000507690.1:p.Gly325Asp | |
| ENST00000682600.1:c.974G>A | ENSP00000507640.1:p.Gly325Asp | |
| ENST00000682769.1:n.809G>A | ||
| ENST00000683509.1:n.1695G>A | ||
| ENST00000683675.1:n.1277G>A | ||
| ENST00000683709.1:n.1696G>A | ||
| ENST00000683957.1:n.3670G>A | ||
| ENST00000684130.1:c.2798G>A | ENSP00000508037.1:p.Gly933Asp | |
| ENST00000343523.7:c.2033G>A | ENSP00000340057.4:p.Gly678Asp | |
| ENST00000357033.9:c.10178G>A MANE Select | ENSP00000354923.3:p.Gly3393Asp | |
| ENST00000475732.2:n.544G>A | ||
| ENST00000619831.5:c.6146G>A | ENSP00000479270.2:p.Gly2049Asp | |
| ENST00000620040.5:c.2798G>A | ENSP00000478150.2:p.Gly933Asp | |
| ENST00000679641.1:c.*180G>A | ENSP00000506135.1:n.*180G>A | |
| ENST00000679706.1:c.135G>A | ||
| ENST00000680162.1:c.851G>A | ENSP00000506634.1:p.Gly284Asp | |
| ENST00000680355.1:c.974G>A | ENSP00000506257.1:p.Gly325Asp | |
| ENST00000680557.1:c.603+25247G>A | ENSP00000505164.1:n.603+25247G>A | |
| ENST00000680768.1:c.917G>A | ENSP00000506359.1:p.Gly306Asp | |
| ENST00000680961.1:c.*180G>A | ENSP00000506386.1:n.*180G>A | |
| ENST00000681153.1:c.974G>A | ENSP00000505124.1:p.Gly325Asp | |
| ENST00000681654.1:n.1108G>A | ||
| ENST00000343523.6:c.1991G>A | ENSP00000340057.3:p.Gly664Asp | |
| ENST00000357033.8:c.10178G>A | ENSP00000354923.3:p.Gly3393Asp | |
| ENST00000358062.6:c.3266G>A | ENSP00000350765.2:p.Gly1089Asp | |
| ENST00000359836.5:c.2798G>A | ENSP00000352894.1:p.Gly933Asp | |
| ENST00000361471.8:c.974G>A | ENSP00000354464.4:p.Gly325Asp | |
| ENST00000378677.6:c.10166G>A | ENSP00000367948.2:p.Gly3389Asp | |
| ENST00000378680.6:c.974G>A | ENSP00000367951.2:p.Gly325Asp | |
| ENST00000378702.8:c.974G>A | ENSP00000367974.4:p.Gly325Asp | |
| ENST00000378705.3:c.548G>A | ENSP00000367977.3:p.Gly183Asp | |
| ENST00000378707.7:c.2798G>A | ENSP00000367979.3:p.Gly933Asp | |
| ENST00000378723.7:c.974G>A | ENSP00000367997.3:p.Gly325Asp | |
| ENST00000474231.5:c.2798G>A | ENSP00000417123.1:p.Gly933Asp | |
| ENST00000475732.1:n.394G>A | ||
| ENST00000541735.5:c.2798G>A | ENSP00000444119.1:p.Gly933Asp | |
| ENST00000619831.4:c.10163G>A | ENSP00000479270.1:p.Gly3388Asp | |
| ENST00000620040.4:c.10175G>A | ENSP00000478150.1:p.Gly3392Asp | |
| NM_000109.3:c.10154G>A | NP_000100.2:p.Gly3385Asp | |
| NM_004006.2:c.10178G>A , LRG_199t1:c.10178G>A | NP_003997.1:p.Gly3393Asp | |
| NM_004009.3:c.10166G>A | NP_004000.1:p.Gly3389Asp | |
| NM_004010.3:c.9809G>A | NP_004001.1:p.Gly3270Asp | |
| NM_004011.3:c.6155G>A | NP_004002.2:p.Gly2052Asp | |
| NM_004012.3:c.6146G>A | NP_004003.1:p.Gly2049Asp | |
| NM_004013.2:c.2798G>A | NP_004004.1:p.Gly933Asp | |
| NM_004014.2:c.1991G>A | NP_004005.1:p.Gly664Asp | |
| NM_004015.2:c.974G>A | NP_004006.1:p.Gly325Asp | |
| NM_004016.2:c.974G>A | NP_004007.1:p.Gly325Asp | |
| NM_004017.2:c.974G>A | NP_004008.1:p.Gly325Asp | |
| NM_004018.2:c.974G>A | NP_004009.1:p.Gly325Asp | |
| NM_004019.2:c.974G>A | NP_004010.1:p.Gly325Asp | |
| NM_004020.3:c.2798G>A | NP_004011.2:p.Gly933Asp | |
| NM_004021.2:c.2798G>A | NP_004012.1:p.Gly933Asp | |
| NM_004022.2:c.2798G>A | NP_004013.1:p.Gly933Asp | |
| NM_004023.2:c.2798G>A | NP_004014.1:p.Gly933Asp | |
| XM_006724468.2:c.10178G>A | XP_006724531.1:p.Gly3393Asp | |
| XM_006724469.2:c.10154G>A | XP_006724532.1:p.Gly3385Asp | |
| XM_006724470.2:c.10178G>A | XP_006724533.1:p.Gly3393Asp | |
| XM_006724471.2:c.10178G>A | XP_006724534.1:p.Gly3393Asp | |
| XM_006724472.2:c.10049G>A | XP_006724535.1:p.Gly3350Asp | |
| XM_006724473.2:c.10040G>A | XP_006724536.1:p.Gly3347Asp | |
| XM_006724474.2:c.10178G>A | XP_006724537.1:p.Gly3393Asp | |
| XM_006724475.2:c.10178G>A | XP_006724538.1:p.Gly3393Asp | |
| XM_011545467.1:c.10055G>A | XP_011543769.1:p.Gly3352Asp | |
| XM_006724469.3:c.10154G>A | XP_006724532.1:p.Gly3385Asp | |
| XM_006724470.3:c.10178G>A | XP_006724533.1:p.Gly3393Asp | |
| XM_006724474.3:c.10178G>A | XP_006724537.1:p.Gly3393Asp | |
| XM_017029328.1:c.10178G>A | XP_016884817.1:p.Gly3393Asp | |
| XM_017029331.1:c.4352G>A | XP_016884820.1:p.Gly1451Asp | |
| NM_000109.4:c.10154G>A | NP_000100.3:p.Gly3385Asp | |
| NM_004006.3:c.10178G>A MANE Select | NP_003997.2:p.Gly3393Asp | |
| NM_004011.4:c.6155G>A | NP_004002.3:p.Gly2052Asp | |
| NM_004012.4:c.6146G>A | NP_004003.2:p.Gly2049Asp | |
| NM_004015.3:c.974G>A | NP_004006.1:p.Gly325Asp | |
| NM_004016.3:c.974G>A | NP_004007.1:p.Gly325Asp | |
| NM_004017.3:c.974G>A | NP_004008.1:p.Gly325Asp | |
| NM_004018.3:c.974G>A | NP_004009.1:p.Gly325Asp | |
| NM_004019.3:c.974G>A | NP_004010.1:p.Gly325Asp | |
| NM_004021.3:c.2798G>A | NP_004012.2:p.Gly933Asp | |
| NM_004023.3:c.2798G>A | NP_004014.2:p.Gly933Asp | |
| NM_004013.3:c.2798G>A | NP_004004.2:p.Gly933Asp | |
| NM_004014.3:c.1991G>A | NP_004005.2:p.Gly664Asp | |
| NM_004020.4:c.2798G>A | NP_004011.3:p.Gly933Asp | |
| NM_004022.3:c.2798G>A | NP_004013.2:p.Gly933Asp |