Linked Data
dbSNP Id:
rs2143248581
gnomAD v4:
17-39727441-C-A
MyVariant Identifiers:
chr17:g.37883694C>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39727441C>A , CM000679.2:g.39727441C>A | GRCh38 |
| NC_000017.10:g.37883694C>A , CM000679.1:g.37883694C>A | GRCh37 |
| NC_000017.9:g.35137220C>A | NCBI36 |
| NG_007503.1:g.44302C>A , LRG_724:g.44302C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269571.10:c.3306C>A MANE Select | ENSP00000269571.4:p.Pro1102= | |
| ENST00000269571.9:c.3306C>A | ENSP00000269571.4:p.Pro1102= | |
| ENST00000406381.6:c.3216C>A | ENSP00000385185.2:p.Pro1072= | |
| ENST00000445658.6:c.2478C>A | ENSP00000404047.2:p.Pro826= | |
| ENST00000541774.5:c.3261C>A | ENSP00000446466.1:p.Pro1087= | |
| ENST00000578373.5:c.*3096C>A | ENSP00000463427.1:n.*3096C>A | |
| ENST00000584450.5:c.3160-248C>A | ENSP00000463714.1:n.3160-248C>A | |
| ENST00000584601.5:c.3216C>A | ENSP00000462438.1:p.Pro1072= | |
| NM_001005862.2:c.3216C>A , LRG_724t1:c.3216C>A | NP_001005862.1:p.Pro1072= | |
| NM_001289936.1:c.3261C>A , LRG_724t4:c.3261C>A | NP_001276865.1:p.Pro1087= | |
| NM_001289937.1:c.3160-248C>A | NP_001276866.1:n.3160-248C>A | |
| NM_004448.3:c.3306C>A , LRG_724t2:c.3306C>A | NP_004439.2:p.Pro1102= | |
| NR_110535.1:n.3630C>A | ||
| XM_024450641.1:c.3444C>A | XP_024306409.1:p.Pro1148= | |
| XM_024450642.1:c.3399C>A | XP_024306410.1:p.Pro1133= | |
| XM_024450643.1:c.3354C>A | XP_024306411.1:p.Pro1118= | |
| NM_001005862.3:c.3216C>A | NP_001005862.1:p.Pro1072= | |
| NM_001289936.2:c.3261C>A | NP_001276865.1:p.Pro1087= | |
| NM_001289937.2:c.3160-248C>A | NP_001276866.1:n.3160-248C>A | |
| NM_001382782.1:c.3216C>A | NP_001369711.1:p.Pro1072= | |
| NM_001382783.1:c.3216C>A | NP_001369712.1:p.Pro1072= | |
| NM_001382784.1:c.3423C>A | NP_001369713.1:p.Pro1141= | |
| NM_001382785.1:c.3408C>A | NP_001369714.1:p.Pro1136= | |
| NM_001382786.1:c.3387C>A | NP_001369715.1:p.Pro1129= | |
| NM_001382787.1:c.3381C>A | NP_001369716.1:p.Pro1127= | |
| NM_001382788.1:c.3336C>A | NP_001369717.1:p.Pro1112= | |
| NM_001382789.1:c.3327C>A | NP_001369718.1:p.Pro1109= | |
| NM_001382790.1:c.3303C>A | NP_001369719.1:p.Pro1101= | |
| NM_001382791.1:c.3297C>A | NP_001369720.1:p.Pro1099= | |
| NM_001382792.1:c.3270C>A | NP_001369721.1:p.Pro1090= | |
| NM_001382793.1:c.3264C>A | NP_001369722.1:p.Pro1088= | |
| NM_001382794.1:c.3264C>A | NP_001369723.1:p.Pro1088= | |
| NM_001382795.1:c.3258C>A | NP_001369724.1:p.Pro1086= | |
| NM_001382796.1:c.3219C>A | NP_001369725.1:p.Pro1073= | |
| NM_001382797.1:c.3207C>A | NP_001369726.1:p.Pro1069= | |
| NM_001382798.1:c.3150C>A | NP_001369727.1:p.Pro1050= | |
| NM_001382799.1:c.3126C>A | NP_001369728.1:p.Pro1042= | |
| NM_001382800.1:c.3120C>A | NP_001369729.1:p.Pro1040= | |
| NM_001382801.1:c.3102C>A | NP_001369730.1:p.Pro1034= | |
| NM_001382802.1:c.3048C>A | NP_001369731.1:p.Pro1016= | |
| NM_001382803.1:c.3118-248C>A | NP_001369732.1:n.3118-248C>A | |
| NM_001382804.1:c.2478C>A | NP_001369733.1:p.Pro826= | |
| NM_001382805.1:c.2355C>A | NP_001369734.1:p.Pro785= | |
| NM_001382806.1:c.2268C>A | NP_001369735.1:p.Pro756= | |
| NM_004448.4:c.3306C>A MANE Select | NP_004439.2:p.Pro1102= | |
| NR_110535.2:n.3544C>A |