Linked Data
dbSNP Id:
rs2059842961
gnomAD v4:
17-39727522-C-T
MyVariant Identifiers:
chr17:g.37883775C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39727522C>T , CM000679.2:g.39727522C>T | GRCh38 |
| NC_000017.10:g.37883775C>T , CM000679.1:g.37883775C>T | GRCh37 |
| NC_000017.9:g.35137301C>T | NCBI36 |
| NG_007503.1:g.44383C>T , LRG_724:g.44383C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269571.10:c.3387C>T MANE Select | ENSP00000269571.4:p.Ala1129= | |
| ENST00000269571.9:c.3387C>T | ENSP00000269571.4:p.Ala1129= | |
| ENST00000406381.6:c.3297C>T | ENSP00000385185.2:p.Ala1099= | |
| ENST00000445658.6:c.2559C>T | ENSP00000404047.2:p.Ala853= | |
| ENST00000541774.5:c.3342C>T | ENSP00000446466.1:p.Ala1114= | |
| ENST00000578373.5:c.*3177C>T | ENSP00000463427.1:n.*3177C>T | |
| ENST00000584450.5:c.3160-167C>T | ENSP00000463714.1:n.3160-167C>T | |
| ENST00000584601.5:c.3297C>T | ENSP00000462438.1:p.Ala1099= | |
| NM_001005862.2:c.3297C>T , LRG_724t1:c.3297C>T | NP_001005862.1:p.Ala1099= | |
| NM_001289936.1:c.3342C>T , LRG_724t4:c.3342C>T | NP_001276865.1:p.Ala1114= | |
| NM_001289937.1:c.3160-167C>T | NP_001276866.1:n.3160-167C>T | |
| NM_004448.3:c.3387C>T , LRG_724t2:c.3387C>T | NP_004439.2:p.Ala1129= | |
| NR_110535.1:n.3711C>T | ||
| XM_024450641.1:c.3525C>T | XP_024306409.1:p.Ala1175= | |
| XM_024450642.1:c.3480C>T | XP_024306410.1:p.Ala1160= | |
| XM_024450643.1:c.3435C>T | XP_024306411.1:p.Ala1145= | |
| NM_001005862.3:c.3297C>T | NP_001005862.1:p.Ala1099= | |
| NM_001289936.2:c.3342C>T | NP_001276865.1:p.Ala1114= | |
| NM_001289937.2:c.3160-167C>T | NP_001276866.1:n.3160-167C>T | |
| NM_001382782.1:c.3297C>T | NP_001369711.1:p.Ala1099= | |
| NM_001382783.1:c.3297C>T | NP_001369712.1:p.Ala1099= | |
| NM_001382784.1:c.3504C>T | NP_001369713.1:p.Ala1168= | |
| NM_001382785.1:c.3489C>T | NP_001369714.1:p.Ala1163= | |
| NM_001382786.1:c.3468C>T | NP_001369715.1:p.Ala1156= | |
| NM_001382787.1:c.3462C>T | NP_001369716.1:p.Ala1154= | |
| NM_001382788.1:c.3417C>T | NP_001369717.1:p.Ala1139= | |
| NM_001382789.1:c.3408C>T | NP_001369718.1:p.Ala1136= | |
| NM_001382790.1:c.3384C>T | NP_001369719.1:p.Ala1128= | |
| NM_001382791.1:c.3378C>T | NP_001369720.1:p.Ala1126= | |
| NM_001382792.1:c.3351C>T | NP_001369721.1:p.Ala1117= | |
| NM_001382793.1:c.3345C>T | NP_001369722.1:p.Ala1115= | |
| NM_001382794.1:c.3345C>T | NP_001369723.1:p.Ala1115= | |
| NM_001382795.1:c.3339C>T | NP_001369724.1:p.Ala1113= | |
| NM_001382796.1:c.3300C>T | NP_001369725.1:p.Ala1100= | |
| NM_001382797.1:c.3288C>T | NP_001369726.1:p.Ala1096= | |
| NM_001382798.1:c.3231C>T | NP_001369727.1:p.Ala1077= | |
| NM_001382799.1:c.3207C>T | NP_001369728.1:p.Ala1069= | |
| NM_001382800.1:c.3201C>T | NP_001369729.1:p.Ala1067= | |
| NM_001382801.1:c.3183C>T | NP_001369730.1:p.Ala1061= | |
| NM_001382802.1:c.3129C>T | NP_001369731.1:p.Ala1043= | |
| NM_001382803.1:c.3118-167C>T | NP_001369732.1:n.3118-167C>T | |
| NM_001382804.1:c.2559C>T | NP_001369733.1:p.Ala853= | |
| NM_001382805.1:c.2436C>T | NP_001369734.1:p.Ala812= | |
| NM_001382806.1:c.2349C>T | NP_001369735.1:p.Ala783= | |
| NM_004448.4:c.3387C>T MANE Select | NP_004439.2:p.Ala1129= | |
| NR_110535.2:n.3625C>T |