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
ClinVar Variation Id:
2910638
ClinVar RCV Id:
RCV003620340
dbSNP Id:
rs200865423
ExAC:
2:50318549 C / T
gnomAD v2:
2-50318549-C-T
gnomAD v4:
2-50091411-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.50091411C>T , CM000664.2:g.50091411C>T | GRCh38 |
| NC_000002.11:g.50318549C>T , CM000664.1:g.50318549C>T | GRCh37 |
| NC_000002.10:g.50172053C>T | NCBI36 |
| NG_011878.1:g.946126G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000401669.7:c.3630G>A MANE Select | ENSP00000385017.2:p.Gly1210= | |
| ENST00000637889.1:n.797G>A | ||
| ENST00000637906.1:c.517G>A | ENSP00000490198.1:n.517G>A | |
| ENST00000342183.9:c.525G>A | ENSP00000341184.5:p.Gly175= | |
| ENST00000401669.6:c.3630G>A | ENSP00000385017.2:p.Gly1210= | |
| ENST00000401710.5:c.525G>A | ENSP00000385580.2:p.Gly175= | |
| ENST00000404971.5:c.3750G>A | ENSP00000385142.1:p.Gly1250= | |
| ENST00000405472.7:c.3594G>A | ENSP00000434015.2:p.Gly1198= | |
| ENST00000406316.6:c.3630G>A | ENSP00000384311.2:p.Gly1210= | |
| ENST00000611589.4:c.-208G>A | ENSP00000483634.1:n.-208G>A | |
| ENST00000625672.2:c.3606G>A | ENSP00000485887.1:p.Gly1202= | |
| ENST00000628364.2:c.525G>A | ENSP00000485815.1:p.Gly175= | |
| ENST00000630543.2:c.3606G>A | ENSP00000486879.1:p.Gly1202= | |
| ENST00000635264.1:n.439G>A | ||
| NM_001135659.1:c.3750G>A | NP_001129131.1:p.Gly1250= | |
| NM_004801.4:c.3630G>A | NP_004792.1:p.Gly1210= | |
| NM_138735.2:c.525G>A | NP_620072.1:p.Gly175= | |
| XM_005264642.2:c.3651G>A | XP_005264699.1:p.Gly1217= | |
| XM_005264643.2:c.3606G>A | XP_005264700.1:p.Gly1202= | |
| XM_006712137.2:c.3651G>A | XP_006712200.1:p.Gly1217= | |
| XM_006712140.2:c.3651G>A | XP_006712203.1:p.Gly1217= | |
| XM_006712141.2:c.3651G>A | XP_006712204.1:p.Gly1217= | |
| XM_011533167.1:c.3651G>A | XP_011531469.1:p.Gly1217= | |
| XM_011533168.1:c.3648G>A | XP_011531470.1:p.Gly1216= | |
| XM_011533169.1:c.3639G>A | XP_011531471.1:p.Gly1213= | |
| XM_011533170.1:c.3633G>A | XP_011531472.1:p.Gly1211= | |
| XM_011533171.1:c.3630G>A | XP_011531473.1:p.Gly1210= | |
| XM_011533172.1:c.3624G>A | XP_011531474.1:p.Gly1208= | |
| XM_011533173.1:c.3621G>A | XP_011531475.1:p.Gly1207= | |
| XM_011533174.1:c.3606G>A | XP_011531476.1:p.Gly1202= | |
| XM_011533175.1:c.3594G>A | XP_011531477.1:p.Gly1198= | |
| XM_011533176.1:c.3591G>A | XP_011531478.1:p.Gly1197= | |
| XM_011533177.1:c.3651G>A | XP_011531479.1:p.Gly1217= | |
| XM_011533178.1:c.3561G>A | XP_011531480.1:p.Gly1187= | |
| XM_011533179.1:c.3606G>A | XP_011531481.1:p.Gly1202= | |
| XM_011533180.1:c.3651G>A | XP_011531482.1:p.Gly1217= | |
| XM_011533181.1:c.2856G>A | XP_011531483.1:p.Gly952= | |
| XM_011533182.1:c.2811G>A | XP_011531484.1:p.Gly937= | |
| XM_011533183.1:c.2784G>A | XP_011531485.1:p.Gly928= | |
| XM_011533184.1:c.2691G>A | XP_011531486.1:p.Gly897= | |
| NM_001135659.2:c.3750G>A | NP_001129131.1:p.Gly1250= | |
| NM_001330077.1:c.3606G>A | NP_001317006.1:p.Gly1202= | |
| NM_001330078.1:c.3630G>A | NP_001317007.1:p.Gly1210= | |
| NM_001330082.1:c.3606G>A | NP_001317011.1:p.Gly1202= | |
| NM_001330083.1:c.3564G>A | NP_001317012.1:p.Gly1188= | |
| NM_001330084.1:c.3564G>A | NP_001317013.1:p.Gly1188= | |
| NM_001330085.1:c.3603G>A | NP_001317014.1:p.Gly1201= | |
| NM_001330086.1:c.3630G>A | NP_001317015.1:p.Gly1210= | |
| NM_001330087.1:c.3519G>A | NP_001317016.1:p.Gly1173= | |
| NM_001330088.1:c.3549G>A | NP_001317017.1:p.Gly1183= | |
| NM_001330091.1:c.525G>A | NP_001317020.1:p.Gly175= | |
| NM_001330092.1:c.525G>A | NP_001317021.1:p.Gly175= | |
| NM_001330093.1:c.3627G>A | NP_001317022.1:p.Gly1209= | |
| NM_001330094.1:c.3618G>A | NP_001317023.1:p.Gly1206= | |
| NM_001330095.1:c.3579G>A | NP_001317024.1:p.Gly1193= | |
| NM_001330096.1:c.3519G>A | NP_001317025.1:p.Gly1173= | |
| NM_001330097.1:c.525G>A | NP_001317026.1:p.Gly175= | |
| NM_004801.5:c.3630G>A | NP_004792.1:p.Gly1210= | |
| NM_138735.4:c.525G>A | NP_620072.1:p.Gly175= | |
| XM_005264642.4:c.3651G>A | XP_005264699.1:p.Gly1217= | |
| XM_006712137.4:c.3651G>A | XP_006712200.1:p.Gly1217= | |
| XM_006712140.4:c.3678G>A | XP_006712203.2:p.Gly1226= | |
| XM_011533167.3:c.3651G>A | XP_011531469.1:p.Gly1217= | |
| XM_011533172.3:c.3624G>A | XP_011531474.1:p.Gly1208= | |
| XM_011533175.3:c.3594G>A | XP_011531477.1:p.Gly1198= | |
| XM_011533177.3:c.3651G>A | XP_011531479.1:p.Gly1217= | |
| XM_011533178.3:c.3561G>A | XP_011531480.1:p.Gly1187= | |
| XM_011533180.3:c.3651G>A | XP_011531482.1:p.Gly1217= | |
| XM_011533183.2:c.2784G>A | XP_011531485.1:p.Gly928= | |
| XM_017005303.2:c.3678G>A | XP_016860792.1:p.Gly1226= | |
| XM_017005304.2:c.3675G>A | XP_016860793.1:p.Gly1225= | |
| XM_017005305.2:c.3678G>A | XP_016860794.1:p.Gly1226= | |
| XM_017005306.2:c.3666G>A | XP_016860795.1:p.Gly1222= | |
| XM_017005307.2:c.3660G>A | XP_016860796.1:p.Gly1220= | |
| XM_017005308.2:c.3657G>A | XP_016860797.1:p.Gly1219= | |
| XM_017005309.2:c.3651G>A | XP_016860798.1:p.Gly1217= | |
| XM_017005310.2:c.3648G>A | XP_016860799.1:p.Gly1216= | |
| XM_017005311.2:c.3633G>A | XP_016860800.1:p.Gly1211= | |
| XM_017005314.2:c.3618G>A | XP_016860803.1:p.Gly1206= | |
| XM_017005315.2:c.3624G>A | XP_016860804.1:p.Gly1208= | |
| XM_017005316.2:c.3615G>A | XP_016860805.1:p.Gly1205= | |
| XM_017005318.2:c.3606G>A | XP_016860807.1:p.Gly1202= | |
| XM_017005320.2:c.3603G>A | XP_016860809.1:p.Gly1201= | |
| XM_017005321.2:c.3678G>A | XP_016860810.1:p.Gly1226= | |
| XM_017005322.2:c.3678G>A | XP_016860811.1:p.Gly1226= | |
| XM_017005324.2:c.3624G>A | XP_016860813.1:p.Gly1208= | |
| XM_017005325.2:c.3624G>A | XP_016860814.1:p.Gly1208= | |
| XM_017005326.2:c.3612G>A | XP_016860815.1:p.Gly1204= | |
| XM_017005327.2:c.3606G>A | XP_016860816.1:p.Gly1202= | |
| XM_017005329.2:c.3678G>A | XP_016860818.1:p.Gly1226= | |
| XM_017005334.2:c.2718G>A | XP_016860823.1:p.Gly906= | |
| NM_001330078.2:c.3630G>A MANE Select | NP_001317007.1:p.Gly1210= | |
| NM_001135659.3:c.3750G>A | NP_001129131.1:p.Gly1250= | |
| NM_001330077.2:c.3606G>A | NP_001317006.1:p.Gly1202= | |
| NM_001330082.2:c.3606G>A | NP_001317011.1:p.Gly1202= | |
| NM_001330083.2:c.3564G>A | NP_001317012.1:p.Gly1188= | |
| NM_001330084.2:c.3564G>A | NP_001317013.1:p.Gly1188= | |
| NM_001330085.2:c.3603G>A | NP_001317014.1:p.Gly1201= | |
| NM_001330086.2:c.3630G>A | NP_001317015.1:p.Gly1210= | |
| NM_001330087.2:c.3519G>A | NP_001317016.1:p.Gly1173= | |
| NM_001330088.2:c.3549G>A | NP_001317017.1:p.Gly1183= | |
| NM_001330091.2:c.525G>A | NP_001317020.1:p.Gly175= | |
| NM_001330092.2:c.525G>A | NP_001317021.1:p.Gly175= | |
| NM_001330093.2:c.3627G>A | NP_001317022.1:p.Gly1209= | |
| NM_001330094.2:c.3618G>A | NP_001317023.1:p.Gly1206= | |
| NM_001330095.2:c.3579G>A | NP_001317024.1:p.Gly1193= | |
| NM_001330096.2:c.3519G>A | NP_001317025.1:p.Gly1173= | |
| NM_001330097.2:c.525G>A | NP_001317026.1:p.Gly175= | |
| NM_004801.6:c.3630G>A | NP_004792.1:p.Gly1210= | |
| NM_138735.5:c.525G>A | NP_620072.1:p.Gly175= |