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_000002.12:g.151870670C= , CM000664.2:g.151870670C= | GRCh38 |
| NC_000002.11:g.152727184C= , CM000664.1:g.152727184C= | GRCh37 |
| NC_000002.10:g.152435430C= | NCBI36 |
| NG_012641.1:g.233410G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000534999.7:c.517-59G= | ENSP00000443893.1:n.517-59G= | |
| ENST00000201943.10:c.619-59G= | ENSP00000201943.5:n.619-59G= | |
| ENST00000360283.11:c.517-59G= | ENSP00000353425.8:n.517-59G= | |
| ENST00000397327.7:c.478-59G= | ENSP00000380490.3:n.478-59G= | |
| ENST00000427385.6:c.496-59G= | ENSP00000410978.2:n.496-59G= | |
| ENST00000434468.2:c.355-59G= | ENSP00000399242.2:n.355-59G= | |
| ENST00000439467.6:c.478-59G= | ENSP00000390161.2:n.478-59G= | |
| ENST00000470066.2:n.748-59G= | ||
| ENST00000534999.6:c.517-59G= | ENSP00000443893.1:n.517-59G= | |
| ENST00000539935.7:c.619-59G= MANE Select | ENSP00000438949.1:n.619-59G= | |
| ENST00000635738.1:c.516+172G= | ENSP00000489881.1:n.516+172G= | |
| ENST00000635803.1:n.859-59G= | ||
| ENST00000635904.1:c.478-59G= | ENSP00000490430.1:n.478-59G= | |
| ENST00000635930.1:c.61-59G= | ENSP00000489953.1:n.61-59G= | |
| ENST00000636108.1:c.478-59G= | ENSP00000490176.1:n.478-59G= | |
| ENST00000636129.1:c.565-59G= | ENSP00000489912.1:n.565-59G= | |
| ENST00000636130.1:c.478-59G= | ENSP00000490607.1:n.478-59G= | |
| ENST00000636350.1:c.394-59G= | ENSP00000489621.1:n.394-59G= | |
| ENST00000636380.1:c.457+1747G= | ENSP00000490488.1:n.457+1747G= | |
| ENST00000636390.1:c.147-59G= | ||
| ENST00000636442.1:c.442-59G= | ENSP00000489779.1:n.442-59G= | |
| ENST00000636507.1:c.478-59G= | ENSP00000490252.1:n.478-59G= | |
| ENST00000636598.1:c.478-59G= | ENSP00000490247.1:n.478-59G= | |
| ENST00000636617.1:c.419+5756G= | ENSP00000490660.1:n.419+5756G= | |
| ENST00000636664.1:c.517-59G= | ENSP00000490572.1:n.517-59G= | |
| ENST00000636721.1:c.478-59G= | ENSP00000490795.1:n.478-59G= | |
| ENST00000636762.1:c.*21-59G= | ENSP00000490918.1:n.*21-59G= | |
| ENST00000636773.1:c.478-59G= | ENSP00000489818.1:n.478-59G= | |
| ENST00000636785.1:c.565-59G= | ENSP00000489788.1:n.565-59G= | |
| ENST00000636810.1:n.2623G= | ||
| ENST00000636831.1:n.2461G= | ||
| ENST00000636834.1:n.2462G= | ||
| ENST00000636901.1:c.517-59G= | ENSP00000490145.1:n.517-59G= | |
| ENST00000636947.1:c.517-59G= | ENSP00000490337.1:n.517-59G= | |
| ENST00000637007.1:c.241-59G= | ||
| ENST00000637132.1:c.478-59G= | ENSP00000490651.1:n.478-59G= | |
| ENST00000637216.1:c.517-59G= | ENSP00000490910.1:n.517-59G= | |
| ENST00000637217.1:c.478-59G= | ENSP00000490250.1:n.478-59G= | |
| ENST00000637224.1:c.478-59G= | ENSP00000490276.1:n.478-59G= | |
| ENST00000637232.1:c.380+5756G= | ENSP00000490138.1:n.380+5756G= | |
| ENST00000637284.1:c.61-59G= | ENSP00000489787.1:n.61-59G= | |
| ENST00000637309.1:c.619-59G= | ENSP00000490127.1:n.619-59G= | |
| ENST00000637312.1:c.497-59G= | ENSP00000490144.1:n.497-59G= | |
| ENST00000637319.1:n.897-59G= | ||
| ENST00000637330.1:c.*556-59G= | ENSP00000490817.1:n.*556-59G= | |
| ENST00000637418.1:c.394-59G= | ENSP00000489679.1:n.394-59G= | |
| ENST00000637436.1:c.*437-59G= | ENSP00000489746.1:n.*437-59G= | |
| ENST00000637491.1:c.517-59G= | ENSP00000490510.1:n.517-59G= | |
| ENST00000637514.1:c.61-59G= | ENSP00000490304.1:n.61-59G= | |
| ENST00000637530.1:n.737-59G= | ||
| ENST00000637535.1:c.517-59G= | ENSP00000490891.1:n.517-59G= | |
| ENST00000637547.1:c.477+172G= | ENSP00000490124.1:n.477+172G= | |
| ENST00000637550.1:c.419+5756G= | ENSP00000489943.1:n.419+5756G= | |
| ENST00000637559.1:c.517-59G= | ENSP00000489697.1:n.517-59G= | |
| ENST00000637622.1:n.897-59G= | ||
| ENST00000637762.1:c.529-59G= | ENSP00000489876.1:n.529-59G= | |
| ENST00000637765.1:n.737-59G= | ||
| ENST00000637773.1:n.2463G= | ||
| ENST00000637779.1:c.497-59G= | ENSP00000489732.1:n.497-59G= | |
| ENST00000637828.1:c.478-59G= | ENSP00000490443.1:n.478-59G= | |
| ENST00000637884.1:n.3466G= | ||
| ENST00000637913.1:n.604-59G= | ||
| ENST00000637956.1:c.61-59G= | ENSP00000490298.1:n.61-59G= | |
| ENST00000638005.1:c.565-59G= | ENSP00000489677.1:n.565-59G= | |
| ENST00000638040.1:c.458-59G= | ENSP00000489883.1:n.458-59G= | |
| ENST00000638056.1:c.232-59G= | ||
| ENST00000638091.1:c.517-59G= | ENSP00000489967.1:n.517-59G= | |
| ENST00000638150.1:c.496+1747G= | ENSP00000490501.1:n.496+1747G= | |
| ENST00000201943.9:c.619-59G= | ENSP00000201943.5:n.619-59G= | |
| ENST00000360283.10:c.517-59G= | ENSP00000353425.7:n.517-59G= | |
| ENST00000397327.6:c.478-59G= | ENSP00000380490.2:n.478-59G= | |
| ENST00000427385.5:c.565-59G= | ENSP00000410978.1:n.565-59G= | |
| ENST00000439467.5:c.604-59G= | ENSP00000390161.1:n.604-59G= | |
| ENST00000470066.1:n.524-59G= | ||
| ENST00000534999.5:c.517-59G= | ENSP00000443893.1:n.517-59G= | |
| ENST00000539935.5:c.619-59G= | ENSP00000438949.1:n.619-59G= | |
| NM_000726.3:c.619-59G= | NP_000717.2:n.619-59G= | |
| NM_001005746.2:c.565-59G= | NP_001005746.1:n.565-59G= | |
| NM_001005747.2:c.517-59G= | NP_001005747.1:n.517-59G= | |
| NM_001145798.1:c.619-59G= | NP_001139270.1:n.619-59G= | |
| XM_005246838.2:c.517-59G= | XP_005246895.1:n.517-59G= | |
| XM_006712731.1:c.478-59G= | XP_006712794.1:n.478-59G= | |
| XM_011511795.1:c.478-59G= | XP_011510097.1:n.478-59G= | |
| XM_011511796.1:c.475-59G= | XP_011510098.1:n.475-59G= | |
| XM_011511797.1:c.599-59G= | XP_011510099.1:n.599-59G= | |
| XM_011511798.1:c.619-59G= | XP_011510100.1:n.619-59G= | |
| XM_011511799.1:c.619-59G= | XP_011510101.1:n.619-59G= | |
| XM_011511800.1:c.-36-59G= | XP_011510102.1:n.-36-59G= | |
| XR_923022.1:n.1596-59G= | ||
| XR_923023.1:n.1596-59G= | ||
| NM_000726.4:c.619-59G= | NP_000717.2:n.619-59G= | |
| NM_001005746.3:c.565-59G= | NP_001005746.1:n.565-59G= | |
| NM_001005747.3:c.517-59G= | NP_001005747.1:n.517-59G= | |
| NM_001145798.2:c.619-59G= | NP_001139270.1:n.619-59G= | |
| NM_001320722.2:c.478-59G= | NP_001307651.1:n.478-59G= | |
| NM_001330113.1:c.545-59G= | NP_001317042.1:n.545-59G= | |
| NM_001330114.1:c.-36-59G= | NP_001317043.1:n.-36-59G= | |
| NM_001330115.1:c.497-59G= | NP_001317044.1:n.497-59G= | |
| NM_001330116.1:c.458-59G= | NP_001317045.1:n.458-59G= | |
| NM_001330117.1:c.61-59G= | NP_001317046.1:n.61-59G= | |
| NM_001330118.1:c.478-59G= | NP_001317047.1:n.478-59G= | |
| XM_011511796.2:c.475-59G= | XP_011510098.1:n.475-59G= | |
| XM_011511797.3:c.599-59G= | XP_011510099.1:n.599-59G= | |
| XM_017004885.1:c.-36-59G= | XP_016860374.1:n.-36-59G= | |
| XM_017004888.2:c.545-59G= | XP_016860377.1:n.545-59G= | |
| XM_024453128.1:c.61-59G= | XP_024308896.1:n.61-59G= | |
| XR_001738928.1:n.2405-59G= | ||
| XR_001738935.1:n.756-59G= | ||
| XR_001738937.2:n.897-59G= | ||
| XR_001738938.2:n.897-59G= | ||
| XR_001738939.1:n.756-59G= | ||
| XR_001738940.2:n.897-59G= | ||
| XR_002959337.1:n.772-59G= | ||
| XR_002959338.1:n.897-59G= | ||
| XR_923022.3:n.772-59G= | ||
| NM_001005746.4:c.565-59G= | NP_001005746.1:n.565-59G= | |
| NM_001005747.4:c.517-59G= | NP_001005747.1:n.517-59G= | |
| NM_001320722.3:c.478-59G= | NP_001307651.1:n.478-59G= | |
| NM_001330113.2:c.545-59G= | NP_001317042.1:n.545-59G= | |
| NM_001330114.2:c.-36-59G= | NP_001317043.1:n.-36-59G= | |
| NM_001330115.2:c.497-59G= | NP_001317044.1:n.497-59G= | |
| NM_001330116.2:c.458-59G= | NP_001317045.1:n.458-59G= | |
| NM_001330117.2:c.61-59G= | NP_001317046.1:n.61-59G= | |
| NM_000726.5:c.619-59G= MANE Select | NP_000717.2:n.619-59G= |