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_000002.12:g.50055033T>G , CM000664.2:g.50055033T>G | GRCh38 |
| NC_000002.11:g.50282171T>G , CM000664.1:g.50282171T>G | GRCh37 |
| NC_000002.10:g.50135675T>G | NCBI36 |
| NG_011878.1:g.982504A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000401669.7:c.3730A>C MANE Select | ENSP00000385017.2:p.Asn1244His | |
| ENST00000637889.1:n.897A>C | ||
| ENST00000637906.1:c.606-1443A>C | ENSP00000490198.1:n.606-1443A>C | |
| ENST00000342183.9:c.614-1443A>C | ENSP00000341184.5:n.614-1443A>C | |
| ENST00000401669.6:c.3730A>C | ENSP00000385017.2:p.Asn1244His | |
| ENST00000401710.5:c.625A>C | ENSP00000385580.2:p.Asn209His | |
| ENST00000404971.5:c.3850A>C | ENSP00000385142.1:p.Asn1284His | |
| ENST00000405472.7:c.3694A>C | ENSP00000434015.2:p.Asn1232His | |
| ENST00000406316.6:c.3719-1443A>C | ENSP00000384311.2:n.3719-1443A>C | |
| ENST00000611589.4:c.-119-1443A>C | ENSP00000483634.1:n.-119-1443A>C | |
| ENST00000625672.2:c.3706A>C | ENSP00000485887.1:p.Asn1236His | |
| ENST00000628364.2:c.625A>C | ENSP00000485815.1:p.Asn209His | |
| ENST00000630543.2:c.3706A>C | ENSP00000486879.1:p.Asn1236His | |
| ENST00000635264.1:n.539A>C | ||
| NM_001135659.1:c.3850A>C | NP_001129131.1:p.Asn1284His | |
| NM_004801.4:c.3719-1443A>C | NP_004792.1:n.3719-1443A>C | |
| NM_138735.2:c.614-1443A>C | NP_620072.1:n.614-1443A>C | |
| XM_005264642.2:c.3751A>C | XP_005264699.1:p.Asn1251His | |
| XM_005264643.2:c.3706A>C | XP_005264700.1:p.Asn1236His | |
| XM_006712137.2:c.3740-1443A>C | XP_006712200.1:n.3740-1443A>C | |
| XM_006712140.2:c.3751A>C | XP_006712203.1:p.Asn1251His | |
| XM_011533167.1:c.3751A>C | XP_011531469.1:p.Asn1251His | |
| XM_011533168.1:c.3748A>C | XP_011531470.1:p.Asn1250His | |
| XM_011533169.1:c.3739A>C | XP_011531471.1:p.Asn1247His | |
| XM_011533170.1:c.3733A>C | XP_011531472.1:p.Asn1245His | |
| XM_011533171.1:c.3730A>C | XP_011531473.1:p.Asn1244His | |
| XM_011533172.1:c.3724A>C | XP_011531474.1:p.Asn1242His | |
| XM_011533173.1:c.3721A>C | XP_011531475.1:p.Asn1241His | |
| XM_011533174.1:c.3706A>C | XP_011531476.1:p.Asn1236His | |
| XM_011533175.1:c.3694A>C | XP_011531477.1:p.Asn1232His | |
| XM_011533176.1:c.3691A>C | XP_011531478.1:p.Asn1231His | |
| XM_011533177.1:c.3740-1443A>C | XP_011531479.1:n.3740-1443A>C | |
| XM_011533178.1:c.3661A>C | XP_011531480.1:p.Asn1221His | |
| XM_011533179.1:c.3695-1443A>C | XP_011531481.1:n.3695-1443A>C | |
| XM_011533180.1:c.3751A>C | XP_011531482.1:p.Asn1251His | |
| XM_011533181.1:c.2956A>C | XP_011531483.1:p.Asn986His | |
| XM_011533182.1:c.2911A>C | XP_011531484.1:p.Asn971His | |
| XM_011533183.1:c.2884A>C | XP_011531485.1:p.Asn962His | |
| XM_011533184.1:c.2791A>C | XP_011531486.1:p.Asn931His | |
| NM_001135659.2:c.3850A>C | NP_001129131.1:p.Asn1284His | |
| NM_001330077.1:c.3706A>C | NP_001317006.1:p.Asn1236His | |
| NM_001330078.1:c.3730A>C | NP_001317007.1:p.Asn1244His | |
| NM_001330082.1:c.3706A>C | NP_001317011.1:p.Asn1236His | |
| NM_001330083.1:c.3653-1443A>C | NP_001317012.1:n.3653-1443A>C | |
| NM_001330084.1:c.3664A>C | NP_001317013.1:p.Asn1222His | |
| NM_001330085.1:c.3703A>C | NP_001317014.1:p.Asn1235His | |
| NM_001330086.1:c.3730A>C | NP_001317015.1:p.Asn1244His | |
| NM_001330087.1:c.3608-1443A>C | NP_001317016.1:n.3608-1443A>C | |
| NM_001330088.1:c.3638-1443A>C | NP_001317017.1:n.3638-1443A>C | |
| NM_001330091.1:c.625A>C | NP_001317020.1:p.Asn209His | |
| NM_001330092.1:c.625A>C | NP_001317021.1:p.Asn209His | |
| NM_001330093.1:c.3727A>C | NP_001317022.1:p.Asn1243His | |
| NM_001330094.1:c.3718A>C | NP_001317023.1:p.Asn1240His | |
| NM_001330095.1:c.3668-1443A>C | NP_001317024.1:n.3668-1443A>C | |
| NM_001330096.1:c.3608-1443A>C | NP_001317025.1:n.3608-1443A>C | |
| NM_001330097.1:c.614-1443A>C | NP_001317026.1:n.614-1443A>C | |
| NM_004801.5:c.3719-1443A>C | NP_004792.1:n.3719-1443A>C | |
| NM_138735.4:c.614-1443A>C | NP_620072.1:n.614-1443A>C | |
| XM_005264642.4:c.3751A>C | XP_005264699.1:p.Asn1251His | |
| XM_006712137.4:c.3740-1443A>C | XP_006712200.1:n.3740-1443A>C | |
| XM_006712140.4:c.3778A>C | XP_006712203.2:p.Asn1260His | |
| XM_011533167.3:c.3751A>C | XP_011531469.1:p.Asn1251His | |
| XM_011533172.3:c.3724A>C | XP_011531474.1:p.Asn1242His | |
| XM_011533175.3:c.3694A>C | XP_011531477.1:p.Asn1232His | |
| XM_011533177.3:c.3740-1443A>C | XP_011531479.1:n.3740-1443A>C | |
| XM_011533178.3:c.3661A>C | XP_011531480.1:p.Asn1221His | |
| XM_011533180.3:c.3751A>C | XP_011531482.1:p.Asn1251His | |
| XM_011533183.2:c.2884A>C | XP_011531485.1:p.Asn962His | |
| XM_017005303.2:c.3778A>C | XP_016860792.1:p.Asn1260His | |
| XM_017005304.2:c.3775A>C | XP_016860793.1:p.Asn1259His | |
| XM_017005305.2:c.3778A>C | XP_016860794.1:p.Asn1260His | |
| XM_017005306.2:c.3766A>C | XP_016860795.1:p.Asn1256His | |
| XM_017005307.2:c.3760A>C | XP_016860796.1:p.Asn1254His | |
| XM_017005308.2:c.3757A>C | XP_016860797.1:p.Asn1253His | |
| XM_017005309.2:c.3751A>C | XP_016860798.1:p.Asn1251His | |
| XM_017005310.2:c.3748A>C | XP_016860799.1:p.Asn1250His | |
| XM_017005311.2:c.3733A>C | XP_016860800.1:p.Asn1245His | |
| XM_017005314.2:c.3718A>C | XP_016860803.1:p.Asn1240His | |
| XM_017005315.2:c.3724A>C | XP_016860804.1:p.Asn1242His | |
| XM_017005316.2:c.3715A>C | XP_016860805.1:p.Asn1239His | |
| XM_017005318.2:c.3706A>C | XP_016860807.1:p.Asn1236His | |
| XM_017005320.2:c.3703A>C | XP_016860809.1:p.Asn1235His | |
| XM_017005321.2:c.3767-1443A>C | XP_016860810.1:n.3767-1443A>C | |
| XM_017005322.2:c.3767-1443A>C | XP_016860811.1:n.3767-1443A>C | |
| XM_017005324.2:c.3713-1443A>C | XP_016860813.1:n.3713-1443A>C | |
| XM_017005325.2:c.3713-1443A>C | XP_016860814.1:n.3713-1443A>C | |
| XM_017005326.2:c.3701-1443A>C | XP_016860815.1:n.3701-1443A>C | |
| XM_017005327.2:c.3695-1443A>C | XP_016860816.1:n.3695-1443A>C | |
| XM_017005329.2:c.3778A>C | XP_016860818.1:p.Asn1260His | |
| XM_017005334.2:c.2818A>C | XP_016860823.1:p.Asn940His | |
| NM_001330078.2:c.3730A>C MANE Select | NP_001317007.1:p.Asn1244His | |
| NM_001135659.3:c.3850A>C | NP_001129131.1:p.Asn1284His | |
| NM_001330077.2:c.3706A>C | NP_001317006.1:p.Asn1236His | |
| NM_001330082.2:c.3706A>C | NP_001317011.1:p.Asn1236His | |
| NM_001330083.2:c.3653-1443A>C | NP_001317012.1:n.3653-1443A>C | |
| NM_001330084.2:c.3664A>C | NP_001317013.1:p.Asn1222His | |
| NM_001330085.2:c.3703A>C | NP_001317014.1:p.Asn1235His | |
| NM_001330086.2:c.3730A>C | NP_001317015.1:p.Asn1244His | |
| NM_001330087.2:c.3608-1443A>C | NP_001317016.1:n.3608-1443A>C | |
| NM_001330088.2:c.3638-1443A>C | NP_001317017.1:n.3638-1443A>C | |
| NM_001330091.2:c.625A>C | NP_001317020.1:p.Asn209His | |
| NM_001330092.2:c.625A>C | NP_001317021.1:p.Asn209His | |
| NM_001330093.2:c.3727A>C | NP_001317022.1:p.Asn1243His | |
| NM_001330094.2:c.3718A>C | NP_001317023.1:p.Asn1240His | |
| NM_001330095.2:c.3668-1443A>C | NP_001317024.1:n.3668-1443A>C | |
| NM_001330096.2:c.3608-1443A>C | NP_001317025.1:n.3608-1443A>C | |
| NM_001330097.2:c.614-1443A>C | NP_001317026.1:n.614-1443A>C | |
| NM_004801.6:c.3719-1443A>C | NP_004792.1:n.3719-1443A>C | |
| NM_138735.5:c.614-1443A>C | NP_620072.1:n.614-1443A>C |