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.50091421A>T , CM000664.2:g.50091421A>T | GRCh38 |
| NC_000002.11:g.50318559A>T , CM000664.1:g.50318559A>T | GRCh37 |
| NC_000002.10:g.50172063A>T | NCBI36 |
| NG_011878.1:g.946116T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000401669.7:c.3620T>A MANE Select | ENSP00000385017.2:p.Ile1207Asn | |
| ENST00000637889.1:n.787T>A | ||
| ENST00000637906.1:c.507T>A | ENSP00000490198.1:n.507T>A | |
| ENST00000342183.9:c.515T>A | ENSP00000341184.5:p.Ile172Asn | |
| ENST00000401669.6:c.3620T>A | ENSP00000385017.2:p.Ile1207Asn | |
| ENST00000401710.5:c.515T>A | ENSP00000385580.2:p.Ile172Asn | |
| ENST00000404971.5:c.3740T>A | ENSP00000385142.1:p.Ile1247Asn | |
| ENST00000405472.7:c.3584T>A | ENSP00000434015.2:p.Ile1195Asn | |
| ENST00000406316.6:c.3620T>A | ENSP00000384311.2:p.Ile1207Asn | |
| ENST00000611589.4:c.-218T>A | ENSP00000483634.1:n.-218T>A | |
| ENST00000625672.2:c.3596T>A | ENSP00000485887.1:p.Ile1199Asn | |
| ENST00000628364.2:c.515T>A | ENSP00000485815.1:p.Ile172Asn | |
| ENST00000630543.2:c.3596T>A | ENSP00000486879.1:p.Ile1199Asn | |
| ENST00000635264.1:n.429T>A | ||
| NM_001135659.1:c.3740T>A | NP_001129131.1:p.Ile1247Asn | |
| NM_004801.4:c.3620T>A | NP_004792.1:p.Ile1207Asn | |
| NM_138735.2:c.515T>A | NP_620072.1:p.Ile172Asn | |
| XM_005264642.2:c.3641T>A | XP_005264699.1:p.Ile1214Asn | |
| XM_005264643.2:c.3596T>A | XP_005264700.1:p.Ile1199Asn | |
| XM_006712137.2:c.3641T>A | XP_006712200.1:p.Ile1214Asn | |
| XM_006712140.2:c.3641T>A | XP_006712203.1:p.Ile1214Asn | |
| XM_006712141.2:c.3641T>A | XP_006712204.1:p.Ile1214Asn | |
| XM_011533167.1:c.3641T>A | XP_011531469.1:p.Ile1214Asn | |
| XM_011533168.1:c.3638T>A | XP_011531470.1:p.Ile1213Asn | |
| XM_011533169.1:c.3629T>A | XP_011531471.1:p.Ile1210Asn | |
| XM_011533170.1:c.3623T>A | XP_011531472.1:p.Ile1208Asn | |
| XM_011533171.1:c.3620T>A | XP_011531473.1:p.Ile1207Asn | |
| XM_011533172.1:c.3614T>A | XP_011531474.1:p.Ile1205Asn | |
| XM_011533173.1:c.3611T>A | XP_011531475.1:p.Ile1204Asn | |
| XM_011533174.1:c.3596T>A | XP_011531476.1:p.Ile1199Asn | |
| XM_011533175.1:c.3584T>A | XP_011531477.1:p.Ile1195Asn | |
| XM_011533176.1:c.3581T>A | XP_011531478.1:p.Ile1194Asn | |
| XM_011533177.1:c.3641T>A | XP_011531479.1:p.Ile1214Asn | |
| XM_011533178.1:c.3551T>A | XP_011531480.1:p.Ile1184Asn | |
| XM_011533179.1:c.3596T>A | XP_011531481.1:p.Ile1199Asn | |
| XM_011533180.1:c.3641T>A | XP_011531482.1:p.Ile1214Asn | |
| XM_011533181.1:c.2846T>A | XP_011531483.1:p.Ile949Asn | |
| XM_011533182.1:c.2801T>A | XP_011531484.1:p.Ile934Asn | |
| XM_011533183.1:c.2774T>A | XP_011531485.1:p.Ile925Asn | |
| XM_011533184.1:c.2681T>A | XP_011531486.1:p.Ile894Asn | |
| NM_001135659.2:c.3740T>A | NP_001129131.1:p.Ile1247Asn | |
| NM_001330077.1:c.3596T>A | NP_001317006.1:p.Ile1199Asn | |
| NM_001330078.1:c.3620T>A | NP_001317007.1:p.Ile1207Asn | |
| NM_001330082.1:c.3596T>A | NP_001317011.1:p.Ile1199Asn | |
| NM_001330083.1:c.3554T>A | NP_001317012.1:p.Ile1185Asn | |
| NM_001330084.1:c.3554T>A | NP_001317013.1:p.Ile1185Asn | |
| NM_001330085.1:c.3593T>A | NP_001317014.1:p.Ile1198Asn | |
| NM_001330086.1:c.3620T>A | NP_001317015.1:p.Ile1207Asn | |
| NM_001330087.1:c.3509T>A | NP_001317016.1:p.Ile1170Asn | |
| NM_001330088.1:c.3539T>A | NP_001317017.1:p.Ile1180Asn | |
| NM_001330091.1:c.515T>A | NP_001317020.1:p.Ile172Asn | |
| NM_001330092.1:c.515T>A | NP_001317021.1:p.Ile172Asn | |
| NM_001330093.1:c.3617T>A | NP_001317022.1:p.Ile1206Asn | |
| NM_001330094.1:c.3608T>A | NP_001317023.1:p.Ile1203Asn | |
| NM_001330095.1:c.3569T>A | NP_001317024.1:p.Ile1190Asn | |
| NM_001330096.1:c.3509T>A | NP_001317025.1:p.Ile1170Asn | |
| NM_001330097.1:c.515T>A | NP_001317026.1:p.Ile172Asn | |
| NM_004801.5:c.3620T>A | NP_004792.1:p.Ile1207Asn | |
| NM_138735.4:c.515T>A | NP_620072.1:p.Ile172Asn | |
| XM_005264642.4:c.3641T>A | XP_005264699.1:p.Ile1214Asn | |
| XM_006712137.4:c.3641T>A | XP_006712200.1:p.Ile1214Asn | |
| XM_006712140.4:c.3668T>A | XP_006712203.2:p.Ile1223Asn | |
| XM_011533167.3:c.3641T>A | XP_011531469.1:p.Ile1214Asn | |
| XM_011533172.3:c.3614T>A | XP_011531474.1:p.Ile1205Asn | |
| XM_011533175.3:c.3584T>A | XP_011531477.1:p.Ile1195Asn | |
| XM_011533177.3:c.3641T>A | XP_011531479.1:p.Ile1214Asn | |
| XM_011533178.3:c.3551T>A | XP_011531480.1:p.Ile1184Asn | |
| XM_011533180.3:c.3641T>A | XP_011531482.1:p.Ile1214Asn | |
| XM_011533183.2:c.2774T>A | XP_011531485.1:p.Ile925Asn | |
| XM_017005303.2:c.3668T>A | XP_016860792.1:p.Ile1223Asn | |
| XM_017005304.2:c.3665T>A | XP_016860793.1:p.Ile1222Asn | |
| XM_017005305.2:c.3668T>A | XP_016860794.1:p.Ile1223Asn | |
| XM_017005306.2:c.3656T>A | XP_016860795.1:p.Ile1219Asn | |
| XM_017005307.2:c.3650T>A | XP_016860796.1:p.Ile1217Asn | |
| XM_017005308.2:c.3647T>A | XP_016860797.1:p.Ile1216Asn | |
| XM_017005309.2:c.3641T>A | XP_016860798.1:p.Ile1214Asn | |
| XM_017005310.2:c.3638T>A | XP_016860799.1:p.Ile1213Asn | |
| XM_017005311.2:c.3623T>A | XP_016860800.1:p.Ile1208Asn | |
| XM_017005314.2:c.3608T>A | XP_016860803.1:p.Ile1203Asn | |
| XM_017005315.2:c.3614T>A | XP_016860804.1:p.Ile1205Asn | |
| XM_017005316.2:c.3605T>A | XP_016860805.1:p.Ile1202Asn | |
| XM_017005318.2:c.3596T>A | XP_016860807.1:p.Ile1199Asn | |
| XM_017005320.2:c.3593T>A | XP_016860809.1:p.Ile1198Asn | |
| XM_017005321.2:c.3668T>A | XP_016860810.1:p.Ile1223Asn | |
| XM_017005322.2:c.3668T>A | XP_016860811.1:p.Ile1223Asn | |
| XM_017005324.2:c.3614T>A | XP_016860813.1:p.Ile1205Asn | |
| XM_017005325.2:c.3614T>A | XP_016860814.1:p.Ile1205Asn | |
| XM_017005326.2:c.3602T>A | XP_016860815.1:p.Ile1201Asn | |
| XM_017005327.2:c.3596T>A | XP_016860816.1:p.Ile1199Asn | |
| XM_017005329.2:c.3668T>A | XP_016860818.1:p.Ile1223Asn | |
| XM_017005334.2:c.2708T>A | XP_016860823.1:p.Ile903Asn | |
| NM_001330078.2:c.3620T>A MANE Select | NP_001317007.1:p.Ile1207Asn | |
| NM_001135659.3:c.3740T>A | NP_001129131.1:p.Ile1247Asn | |
| NM_001330077.2:c.3596T>A | NP_001317006.1:p.Ile1199Asn | |
| NM_001330082.2:c.3596T>A | NP_001317011.1:p.Ile1199Asn | |
| NM_001330083.2:c.3554T>A | NP_001317012.1:p.Ile1185Asn | |
| NM_001330084.2:c.3554T>A | NP_001317013.1:p.Ile1185Asn | |
| NM_001330085.2:c.3593T>A | NP_001317014.1:p.Ile1198Asn | |
| NM_001330086.2:c.3620T>A | NP_001317015.1:p.Ile1207Asn | |
| NM_001330087.2:c.3509T>A | NP_001317016.1:p.Ile1170Asn | |
| NM_001330088.2:c.3539T>A | NP_001317017.1:p.Ile1180Asn | |
| NM_001330091.2:c.515T>A | NP_001317020.1:p.Ile172Asn | |
| NM_001330092.2:c.515T>A | NP_001317021.1:p.Ile172Asn | |
| NM_001330093.2:c.3617T>A | NP_001317022.1:p.Ile1206Asn | |
| NM_001330094.2:c.3608T>A | NP_001317023.1:p.Ile1203Asn | |
| NM_001330095.2:c.3569T>A | NP_001317024.1:p.Ile1190Asn | |
| NM_001330096.2:c.3509T>A | NP_001317025.1:p.Ile1170Asn | |
| NM_001330097.2:c.515T>A | NP_001317026.1:p.Ile172Asn | |
| NM_004801.6:c.3620T>A | NP_004792.1:p.Ile1207Asn | |
| NM_138735.5:c.515T>A | NP_620072.1:p.Ile172Asn |