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.31178724G>C , CM000685.2:g.31178724G>C | GRCh38 |
| NC_000023.10:g.31196841G>C , CM000685.1:g.31196841G>C | GRCh37 |
| NC_000023.9:g.31106762G>C | NCBI36 |
| NG_012232.1:g.2165886C>G , LRG_199:g.2165886C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358062.7:c.5014C>G | ENSP00000350765.3:p.Pro1672Ala | |
| ENST00000475732.3:n.2515C>G | ||
| ENST00000680162.2:c.964C>G | ENSP00000506634.2:p.Pro322Ala | |
| ENST00000680768.2:c.964C>G | ENSP00000506359.2:p.Pro322Ala | |
| ENST00000681989.1:n.966C>G | ||
| ENST00000682238.1:c.2788C>G | ENSP00000508124.1:p.Pro930Ala | |
| ENST00000682322.1:c.964C>G | ENSP00000507690.1:p.Pro322Ala | |
| ENST00000682600.1:c.964C>G | ENSP00000507640.1:p.Pro322Ala | |
| ENST00000682769.1:n.799C>G | ||
| ENST00000683509.1:n.1685C>G | ||
| ENST00000683675.1:n.1267C>G | ||
| ENST00000683709.1:n.1686C>G | ||
| ENST00000683957.1:n.3660C>G | ||
| ENST00000684130.1:c.2788C>G | ENSP00000508037.1:p.Pro930Ala | |
| ENST00000343523.7:c.2023C>G | ENSP00000340057.4:p.Pro675Ala | |
| ENST00000357033.9:c.10168C>G MANE Select | ENSP00000354923.3:p.Pro3390Ala | |
| ENST00000475732.2:n.534C>G | ||
| ENST00000619831.5:c.6136C>G | ENSP00000479270.2:p.Pro2046Ala | |
| ENST00000620040.5:c.2788C>G | ENSP00000478150.2:p.Pro930Ala | |
| ENST00000679641.1:c.*170C>G | ENSP00000506135.1:n.*170C>G | |
| ENST00000679706.1:c.125C>G | ||
| ENST00000680162.1:c.841C>G | ENSP00000506634.1:p.Pro281Ala | |
| ENST00000680355.1:c.964C>G | ENSP00000506257.1:p.Pro322Ala | |
| ENST00000680557.1:c.603+25237C>G | ENSP00000505164.1:n.603+25237C>G | |
| ENST00000680768.1:c.907C>G | ENSP00000506359.1:p.Pro303Ala | |
| ENST00000680961.1:c.*170C>G | ENSP00000506386.1:n.*170C>G | |
| ENST00000681153.1:c.964C>G | ENSP00000505124.1:p.Pro322Ala | |
| ENST00000681654.1:n.1098C>G | ||
| ENST00000343523.6:c.1981C>G | ENSP00000340057.3:p.Pro661Ala | |
| ENST00000357033.8:c.10168C>G | ENSP00000354923.3:p.Pro3390Ala | |
| ENST00000358062.6:c.3256C>G | ENSP00000350765.2:p.Pro1086Ala | |
| ENST00000359836.5:c.2788C>G | ENSP00000352894.1:p.Pro930Ala | |
| ENST00000361471.8:c.964C>G | ENSP00000354464.4:p.Pro322Ala | |
| ENST00000378677.6:c.10156C>G | ENSP00000367948.2:p.Pro3386Ala | |
| ENST00000378680.6:c.964C>G | ENSP00000367951.2:p.Pro322Ala | |
| ENST00000378702.8:c.964C>G | ENSP00000367974.4:p.Pro322Ala | |
| ENST00000378705.3:c.538C>G | ENSP00000367977.3:p.Pro180Ala | |
| ENST00000378707.7:c.2788C>G | ENSP00000367979.3:p.Pro930Ala | |
| ENST00000378723.7:c.964C>G | ENSP00000367997.3:p.Pro322Ala | |
| ENST00000474231.5:c.2788C>G | ENSP00000417123.1:p.Pro930Ala | |
| ENST00000475732.1:n.384C>G | ||
| ENST00000541735.5:c.2788C>G | ENSP00000444119.1:p.Pro930Ala | |
| ENST00000619831.4:c.10153C>G | ENSP00000479270.1:p.Pro3385Ala | |
| ENST00000620040.4:c.10165C>G | ENSP00000478150.1:p.Pro3389Ala | |
| NM_000109.3:c.10144C>G | NP_000100.2:p.Pro3382Ala | |
| NM_004006.2:c.10168C>G , LRG_199t1:c.10168C>G | NP_003997.1:p.Pro3390Ala | |
| NM_004009.3:c.10156C>G | NP_004000.1:p.Pro3386Ala | |
| NM_004010.3:c.9799C>G | NP_004001.1:p.Pro3267Ala | |
| NM_004011.3:c.6145C>G | NP_004002.2:p.Pro2049Ala | |
| NM_004012.3:c.6136C>G | NP_004003.1:p.Pro2046Ala | |
| NM_004013.2:c.2788C>G | NP_004004.1:p.Pro930Ala | |
| NM_004014.2:c.1981C>G | NP_004005.1:p.Pro661Ala | |
| NM_004015.2:c.964C>G | NP_004006.1:p.Pro322Ala | |
| NM_004016.2:c.964C>G | NP_004007.1:p.Pro322Ala | |
| NM_004017.2:c.964C>G | NP_004008.1:p.Pro322Ala | |
| NM_004018.2:c.964C>G | NP_004009.1:p.Pro322Ala | |
| NM_004019.2:c.964C>G | NP_004010.1:p.Pro322Ala | |
| NM_004020.3:c.2788C>G | NP_004011.2:p.Pro930Ala | |
| NM_004021.2:c.2788C>G | NP_004012.1:p.Pro930Ala | |
| NM_004022.2:c.2788C>G | NP_004013.1:p.Pro930Ala | |
| NM_004023.2:c.2788C>G | NP_004014.1:p.Pro930Ala | |
| XM_006724468.2:c.10168C>G | XP_006724531.1:p.Pro3390Ala | |
| XM_006724469.2:c.10144C>G | XP_006724532.1:p.Pro3382Ala | |
| XM_006724470.2:c.10168C>G | XP_006724533.1:p.Pro3390Ala | |
| XM_006724471.2:c.10168C>G | XP_006724534.1:p.Pro3390Ala | |
| XM_006724472.2:c.10039C>G | XP_006724535.1:p.Pro3347Ala | |
| XM_006724473.2:c.10030C>G | XP_006724536.1:p.Pro3344Ala | |
| XM_006724474.2:c.10168C>G | XP_006724537.1:p.Pro3390Ala | |
| XM_006724475.2:c.10168C>G | XP_006724538.1:p.Pro3390Ala | |
| XM_011545467.1:c.10045C>G | XP_011543769.1:p.Pro3349Ala | |
| XM_006724469.3:c.10144C>G | XP_006724532.1:p.Pro3382Ala | |
| XM_006724470.3:c.10168C>G | XP_006724533.1:p.Pro3390Ala | |
| XM_006724474.3:c.10168C>G | XP_006724537.1:p.Pro3390Ala | |
| XM_017029328.1:c.10168C>G | XP_016884817.1:p.Pro3390Ala | |
| XM_017029331.1:c.4342C>G | XP_016884820.1:p.Pro1448Ala | |
| NM_000109.4:c.10144C>G | NP_000100.3:p.Pro3382Ala | |
| NM_004006.3:c.10168C>G MANE Select | NP_003997.2:p.Pro3390Ala | |
| NM_004011.4:c.6145C>G | NP_004002.3:p.Pro2049Ala | |
| NM_004012.4:c.6136C>G | NP_004003.2:p.Pro2046Ala | |
| NM_004015.3:c.964C>G | NP_004006.1:p.Pro322Ala | |
| NM_004016.3:c.964C>G | NP_004007.1:p.Pro322Ala | |
| NM_004017.3:c.964C>G | NP_004008.1:p.Pro322Ala | |
| NM_004018.3:c.964C>G | NP_004009.1:p.Pro322Ala | |
| NM_004019.3:c.964C>G | NP_004010.1:p.Pro322Ala | |
| NM_004021.3:c.2788C>G | NP_004012.2:p.Pro930Ala | |
| NM_004023.3:c.2788C>G | NP_004014.2:p.Pro930Ala | |
| NM_004013.3:c.2788C>G | NP_004004.2:p.Pro930Ala | |
| NM_004014.3:c.1981C>G | NP_004005.2:p.Pro661Ala | |
| NM_004020.4:c.2788C>G | NP_004011.3:p.Pro930Ala | |
| NM_004022.3:c.2788C>G | NP_004013.2:p.Pro930Ala |