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.50091430T= , CM000664.2:g.50091430T= | GRCh38 |
| NC_000002.11:g.50318568T= , CM000664.1:g.50318568T= | GRCh37 |
| NC_000002.10:g.50172072T= | NCBI36 |
| NG_011878.1:g.946107A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000401669.7:c.3611A= MANE Select | ENSP00000385017.2:p.Asn1204= | |
| ENST00000637889.1:n.778A= | ||
| ENST00000637906.1:c.498A= | ENSP00000490198.1:n.498A= | |
| ENST00000342183.9:c.506A= | ENSP00000341184.5:p.Asn169= | |
| ENST00000401669.6:c.3611A= | ENSP00000385017.2:p.Asn1204= | |
| ENST00000401710.5:c.506A= | ENSP00000385580.2:p.Asn169= | |
| ENST00000404971.5:c.3731A= | ENSP00000385142.1:p.Asn1244= | |
| ENST00000405472.7:c.3575A= | ENSP00000434015.2:p.Asn1192= | |
| ENST00000406316.6:c.3611A= | ENSP00000384311.2:p.Asn1204= | |
| ENST00000611589.4:c.-227A= | ENSP00000483634.1:n.-227A= | |
| ENST00000625672.2:c.3587A= | ENSP00000485887.1:p.Asn1196= | |
| ENST00000628364.2:c.506A= | ENSP00000485815.1:p.Asn169= | |
| ENST00000630543.2:c.3587A= | ENSP00000486879.1:p.Asn1196= | |
| ENST00000635264.1:n.420A= | ||
| NM_001135659.1:c.3731A= | NP_001129131.1:p.Asn1244= | |
| NM_004801.4:c.3611A= | NP_004792.1:p.Asn1204= | |
| NM_138735.2:c.506A= | NP_620072.1:p.Asn169= | |
| XM_005264642.2:c.3632A= | XP_005264699.1:p.Asn1211= | |
| XM_005264643.2:c.3587A= | XP_005264700.1:p.Asn1196= | |
| XM_006712137.2:c.3632A= | XP_006712200.1:p.Asn1211= | |
| XM_006712140.2:c.3632A= | XP_006712203.1:p.Asn1211= | |
| XM_006712141.2:c.3632A= | XP_006712204.1:p.Asn1211= | |
| XM_011533167.1:c.3632A= | XP_011531469.1:p.Asn1211= | |
| XM_011533168.1:c.3629A= | XP_011531470.1:p.Asn1210= | |
| XM_011533169.1:c.3620A= | XP_011531471.1:p.Asn1207= | |
| XM_011533170.1:c.3614A= | XP_011531472.1:p.Asn1205= | |
| XM_011533171.1:c.3611A= | XP_011531473.1:p.Asn1204= | |
| XM_011533172.1:c.3605A= | XP_011531474.1:p.Asn1202= | |
| XM_011533173.1:c.3602A= | XP_011531475.1:p.Asn1201= | |
| XM_011533174.1:c.3587A= | XP_011531476.1:p.Asn1196= | |
| XM_011533175.1:c.3575A= | XP_011531477.1:p.Asn1192= | |
| XM_011533176.1:c.3572A= | XP_011531478.1:p.Asn1191= | |
| XM_011533177.1:c.3632A= | XP_011531479.1:p.Asn1211= | |
| XM_011533178.1:c.3542A= | XP_011531480.1:p.Asn1181= | |
| XM_011533179.1:c.3587A= | XP_011531481.1:p.Asn1196= | |
| XM_011533180.1:c.3632A= | XP_011531482.1:p.Asn1211= | |
| XM_011533181.1:c.2837A= | XP_011531483.1:p.Asn946= | |
| XM_011533182.1:c.2792A= | XP_011531484.1:p.Asn931= | |
| XM_011533183.1:c.2765A= | XP_011531485.1:p.Asn922= | |
| XM_011533184.1:c.2672A= | XP_011531486.1:p.Asn891= | |
| NM_001135659.2:c.3731A= | NP_001129131.1:p.Asn1244= | |
| NM_001330077.1:c.3587A= | NP_001317006.1:p.Asn1196= | |
| NM_001330078.1:c.3611A= | NP_001317007.1:p.Asn1204= | |
| NM_001330082.1:c.3587A= | NP_001317011.1:p.Asn1196= | |
| NM_001330083.1:c.3545A= | NP_001317012.1:p.Asn1182= | |
| NM_001330084.1:c.3545A= | NP_001317013.1:p.Asn1182= | |
| NM_001330085.1:c.3584A= | NP_001317014.1:p.Asn1195= | |
| NM_001330086.1:c.3611A= | NP_001317015.1:p.Asn1204= | |
| NM_001330087.1:c.3500A= | NP_001317016.1:p.Asn1167= | |
| NM_001330088.1:c.3530A= | NP_001317017.1:p.Asn1177= | |
| NM_001330091.1:c.506A= | NP_001317020.1:p.Asn169= | |
| NM_001330092.1:c.506A= | NP_001317021.1:p.Asn169= | |
| NM_001330093.1:c.3608A= | NP_001317022.1:p.Asn1203= | |
| NM_001330094.1:c.3599A= | NP_001317023.1:p.Asn1200= | |
| NM_001330095.1:c.3560A= | NP_001317024.1:p.Asn1187= | |
| NM_001330096.1:c.3500A= | NP_001317025.1:p.Asn1167= | |
| NM_001330097.1:c.506A= | NP_001317026.1:p.Asn169= | |
| NM_004801.5:c.3611A= | NP_004792.1:p.Asn1204= | |
| NM_138735.4:c.506A= | NP_620072.1:p.Asn169= | |
| XM_005264642.4:c.3632A= | XP_005264699.1:p.Asn1211= | |
| XM_006712137.4:c.3632A= | XP_006712200.1:p.Asn1211= | |
| XM_006712140.4:c.3659A= | XP_006712203.2:p.Asn1220= | |
| XM_011533167.3:c.3632A= | XP_011531469.1:p.Asn1211= | |
| XM_011533172.3:c.3605A= | XP_011531474.1:p.Asn1202= | |
| XM_011533175.3:c.3575A= | XP_011531477.1:p.Asn1192= | |
| XM_011533177.3:c.3632A= | XP_011531479.1:p.Asn1211= | |
| XM_011533178.3:c.3542A= | XP_011531480.1:p.Asn1181= | |
| XM_011533180.3:c.3632A= | XP_011531482.1:p.Asn1211= | |
| XM_011533183.2:c.2765A= | XP_011531485.1:p.Asn922= | |
| XM_017005303.2:c.3659A= | XP_016860792.1:p.Asn1220= | |
| XM_017005304.2:c.3656A= | XP_016860793.1:p.Asn1219= | |
| XM_017005305.2:c.3659A= | XP_016860794.1:p.Asn1220= | |
| XM_017005306.2:c.3647A= | XP_016860795.1:p.Asn1216= | |
| XM_017005307.2:c.3641A= | XP_016860796.1:p.Asn1214= | |
| XM_017005308.2:c.3638A= | XP_016860797.1:p.Asn1213= | |
| XM_017005309.2:c.3632A= | XP_016860798.1:p.Asn1211= | |
| XM_017005310.2:c.3629A= | XP_016860799.1:p.Asn1210= | |
| XM_017005311.2:c.3614A= | XP_016860800.1:p.Asn1205= | |
| XM_017005314.2:c.3599A= | XP_016860803.1:p.Asn1200= | |
| XM_017005315.2:c.3605A= | XP_016860804.1:p.Asn1202= | |
| XM_017005316.2:c.3596A= | XP_016860805.1:p.Asn1199= | |
| XM_017005318.2:c.3587A= | XP_016860807.1:p.Asn1196= | |
| XM_017005320.2:c.3584A= | XP_016860809.1:p.Asn1195= | |
| XM_017005321.2:c.3659A= | XP_016860810.1:p.Asn1220= | |
| XM_017005322.2:c.3659A= | XP_016860811.1:p.Asn1220= | |
| XM_017005324.2:c.3605A= | XP_016860813.1:p.Asn1202= | |
| XM_017005325.2:c.3605A= | XP_016860814.1:p.Asn1202= | |
| XM_017005326.2:c.3593A= | XP_016860815.1:p.Asn1198= | |
| XM_017005327.2:c.3587A= | XP_016860816.1:p.Asn1196= | |
| XM_017005329.2:c.3659A= | XP_016860818.1:p.Asn1220= | |
| XM_017005334.2:c.2699A= | XP_016860823.1:p.Asn900= | |
| NM_001330078.2:c.3611A= MANE Select | NP_001317007.1:p.Asn1204= | |
| NM_001135659.3:c.3731A= | NP_001129131.1:p.Asn1244= | |
| NM_001330077.2:c.3587A= | NP_001317006.1:p.Asn1196= | |
| NM_001330082.2:c.3587A= | NP_001317011.1:p.Asn1196= | |
| NM_001330083.2:c.3545A= | NP_001317012.1:p.Asn1182= | |
| NM_001330084.2:c.3545A= | NP_001317013.1:p.Asn1182= | |
| NM_001330085.2:c.3584A= | NP_001317014.1:p.Asn1195= | |
| NM_001330086.2:c.3611A= | NP_001317015.1:p.Asn1204= | |
| NM_001330087.2:c.3500A= | NP_001317016.1:p.Asn1167= | |
| NM_001330088.2:c.3530A= | NP_001317017.1:p.Asn1177= | |
| NM_001330091.2:c.506A= | NP_001317020.1:p.Asn169= | |
| NM_001330092.2:c.506A= | NP_001317021.1:p.Asn169= | |
| NM_001330093.2:c.3608A= | NP_001317022.1:p.Asn1203= | |
| NM_001330094.2:c.3599A= | NP_001317023.1:p.Asn1200= | |
| NM_001330095.2:c.3560A= | NP_001317024.1:p.Asn1187= | |
| NM_001330096.2:c.3500A= | NP_001317025.1:p.Asn1167= | |
| NM_001330097.2:c.506A= | NP_001317026.1:p.Asn169= | |
| NM_004801.6:c.3611A= | NP_004792.1:p.Asn1204= | |
| NM_138735.5:c.506A= | NP_620072.1:p.Asn169= |