Linked Data
ClinVar Variation Id:
738178
ClinVar RCV Id:
RCV000914035
dbSNP Id:
rs141627242
ExAC:
17:37884159 T / C
gnomAD v2:
17-37884159-T-C
gnomAD v3:
17-39727906-T-C
gnomAD v4:
17-39727906-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39727906T>C , CM000679.2:g.39727906T>C | GRCh38 |
| NC_000017.10:g.37884159T>C , CM000679.1:g.37884159T>C | GRCh37 |
| NC_000017.9:g.35137685T>C | NCBI36 |
| NG_007503.1:g.44767T>C , LRG_724:g.44767T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269571.10:c.3630T>C MANE Select | ENSP00000269571.4:p.Pro1210= | |
| ENST00000269571.9:c.3630T>C | ENSP00000269571.4:p.Pro1210= | |
| ENST00000406381.6:c.3540T>C | ENSP00000385185.2:p.Pro1180= | |
| ENST00000445658.6:c.2802T>C | ENSP00000404047.2:p.Pro934= | |
| ENST00000541774.5:c.3585T>C | ENSP00000446466.1:p.Pro1195= | |
| ENST00000578373.5:c.*3420T>C | ENSP00000463427.1:n.*3420T>C | |
| ENST00000584450.5:c.*209T>C | ENSP00000463714.1:n.*209T>C | |
| ENST00000584601.5:c.3540T>C | ENSP00000462438.1:p.Pro1180= | |
| NM_001005862.2:c.3540T>C , LRG_724t1:c.3540T>C | NP_001005862.1:p.Pro1180= | |
| NM_001289936.1:c.3585T>C , LRG_724t4:c.3585T>C | NP_001276865.1:p.Pro1195= | |
| NM_001289937.1:c.*209T>C | NP_001276866.1:n.*209T>C | |
| NM_004448.3:c.3630T>C , LRG_724t2:c.3630T>C | NP_004439.2:p.Pro1210= | |
| NR_110535.1:n.3954T>C | ||
| XM_024450641.1:c.3768T>C | XP_024306409.1:p.Pro1256= | |
| XM_024450642.1:c.3723T>C | XP_024306410.1:p.Pro1241= | |
| XM_024450643.1:c.3678T>C | XP_024306411.1:p.Pro1226= | |
| NM_001005862.3:c.3540T>C | NP_001005862.1:p.Pro1180= | |
| NM_001289936.2:c.3585T>C | NP_001276865.1:p.Pro1195= | |
| NM_001289937.2:c.*209T>C | NP_001276866.1:n.*209T>C | |
| NM_001382782.1:c.3540T>C | NP_001369711.1:p.Pro1180= | |
| NM_001382783.1:c.3540T>C | NP_001369712.1:p.Pro1180= | |
| NM_001382784.1:c.3747T>C | NP_001369713.1:p.Pro1249= | |
| NM_001382785.1:c.3732T>C | NP_001369714.1:p.Pro1244= | |
| NM_001382786.1:c.3711T>C | NP_001369715.1:p.Pro1237= | |
| NM_001382787.1:c.3705T>C | NP_001369716.1:p.Pro1235= | |
| NM_001382788.1:c.3660T>C | NP_001369717.1:p.Pro1220= | |
| NM_001382789.1:c.3651T>C | NP_001369718.1:p.Pro1217= | |
| NM_001382790.1:c.3627T>C | NP_001369719.1:p.Pro1209= | |
| NM_001382791.1:c.3621T>C | NP_001369720.1:p.Pro1207= | |
| NM_001382792.1:c.3594T>C | NP_001369721.1:p.Pro1198= | |
| NM_001382793.1:c.3588T>C | NP_001369722.1:p.Pro1196= | |
| NM_001382794.1:c.3588T>C | NP_001369723.1:p.Pro1196= | |
| NM_001382795.1:c.3582T>C | NP_001369724.1:p.Pro1194= | |
| NM_001382796.1:c.3543T>C | NP_001369725.1:p.Pro1181= | |
| NM_001382797.1:c.3531T>C | NP_001369726.1:p.Pro1177= | |
| NM_001382798.1:c.3474T>C | NP_001369727.1:p.Pro1158= | |
| NM_001382799.1:c.3450T>C | NP_001369728.1:p.Pro1150= | |
| NM_001382800.1:c.3444T>C | NP_001369729.1:p.Pro1148= | |
| NM_001382801.1:c.3426T>C | NP_001369730.1:p.Pro1142= | |
| NM_001382802.1:c.3372T>C | NP_001369731.1:p.Pro1124= | |
| NM_001382803.1:c.*209T>C | NP_001369732.1:n.*209T>C | |
| NM_001382804.1:c.2802T>C | NP_001369733.1:p.Pro934= | |
| NM_001382805.1:c.2679T>C | NP_001369734.1:p.Pro893= | |
| NM_001382806.1:c.2592T>C | NP_001369735.1:p.Pro864= | |
| NM_004448.4:c.3630T>C MANE Select | NP_004439.2:p.Pro1210= | |
| NR_110535.2:n.3868T>C |