Linked Data
ClinVar Variation Id:
2879293
ClinVar RCV Id:
RCV003710629
dbSNP Id:
rs1457230134
gnomAD v4:
17-39727924-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39727924C>G , CM000679.2:g.39727924C>G | GRCh38 |
| NC_000017.10:g.37884177C>G , CM000679.1:g.37884177C>G | GRCh37 |
| NC_000017.9:g.35137703C>G | NCBI36 |
| NG_007503.1:g.44785C>G , LRG_724:g.44785C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269571.10:c.3648C>G MANE Select | ENSP00000269571.4:p.Ala1216= | |
| ENST00000269571.9:c.3648C>G | ENSP00000269571.4:p.Ala1216= | |
| ENST00000406381.6:c.3558C>G | ENSP00000385185.2:p.Ala1186= | |
| ENST00000445658.6:c.2820C>G | ENSP00000404047.2:p.Ala940= | |
| ENST00000541774.5:c.3603C>G | ENSP00000446466.1:p.Ala1201= | |
| ENST00000578373.5:c.*3438C>G | ENSP00000463427.1:n.*3438C>G | |
| ENST00000584450.5:c.*227C>G | ENSP00000463714.1:n.*227C>G | |
| ENST00000584601.5:c.3558C>G | ENSP00000462438.1:p.Ala1186= | |
| NM_001005862.2:c.3558C>G , LRG_724t1:c.3558C>G | NP_001005862.1:p.Ala1186= | |
| NM_001289936.1:c.3603C>G , LRG_724t4:c.3603C>G | NP_001276865.1:p.Ala1201= | |
| NM_001289937.1:c.*227C>G | NP_001276866.1:n.*227C>G | |
| NM_004448.3:c.3648C>G , LRG_724t2:c.3648C>G | NP_004439.2:p.Ala1216= | |
| NR_110535.1:n.3972C>G | ||
| XM_024450641.1:c.3786C>G | XP_024306409.1:p.Ala1262= | |
| XM_024450642.1:c.3741C>G | XP_024306410.1:p.Ala1247= | |
| XM_024450643.1:c.3696C>G | XP_024306411.1:p.Ala1232= | |
| NM_001005862.3:c.3558C>G | NP_001005862.1:p.Ala1186= | |
| NM_001289936.2:c.3603C>G | NP_001276865.1:p.Ala1201= | |
| NM_001289937.2:c.*227C>G | NP_001276866.1:n.*227C>G | |
| NM_001382782.1:c.3558C>G | NP_001369711.1:p.Ala1186= | |
| NM_001382783.1:c.3558C>G | NP_001369712.1:p.Ala1186= | |
| NM_001382784.1:c.3765C>G | NP_001369713.1:p.Ala1255= | |
| NM_001382785.1:c.3750C>G | NP_001369714.1:p.Ala1250= | |
| NM_001382786.1:c.3729C>G | NP_001369715.1:p.Ala1243= | |
| NM_001382787.1:c.3723C>G | NP_001369716.1:p.Ala1241= | |
| NM_001382788.1:c.3678C>G | NP_001369717.1:p.Ala1226= | |
| NM_001382789.1:c.3669C>G | NP_001369718.1:p.Ala1223= | |
| NM_001382790.1:c.3645C>G | NP_001369719.1:p.Ala1215= | |
| NM_001382791.1:c.3639C>G | NP_001369720.1:p.Ala1213= | |
| NM_001382792.1:c.3612C>G | NP_001369721.1:p.Ala1204= | |
| NM_001382793.1:c.3606C>G | NP_001369722.1:p.Ala1202= | |
| NM_001382794.1:c.3606C>G | NP_001369723.1:p.Ala1202= | |
| NM_001382795.1:c.3600C>G | NP_001369724.1:p.Ala1200= | |
| NM_001382796.1:c.3561C>G | NP_001369725.1:p.Ala1187= | |
| NM_001382797.1:c.3549C>G | NP_001369726.1:p.Ala1183= | |
| NM_001382798.1:c.3492C>G | NP_001369727.1:p.Ala1164= | |
| NM_001382799.1:c.3468C>G | NP_001369728.1:p.Ala1156= | |
| NM_001382800.1:c.3462C>G | NP_001369729.1:p.Ala1154= | |
| NM_001382801.1:c.3444C>G | NP_001369730.1:p.Ala1148= | |
| NM_001382802.1:c.3390C>G | NP_001369731.1:p.Ala1130= | |
| NM_001382803.1:c.*227C>G | NP_001369732.1:n.*227C>G | |
| NM_001382804.1:c.2820C>G | NP_001369733.1:p.Ala940= | |
| NM_001382805.1:c.2697C>G | NP_001369734.1:p.Ala899= | |
| NM_001382806.1:c.2610C>G | NP_001369735.1:p.Ala870= | |
| NM_004448.4:c.3648C>G MANE Select | NP_004439.2:p.Ala1216= | |
| NR_110535.2:n.3886C>G |