Linked Data
ClinVar Variation Id:
134083
dbSNP Id:
rs145772320
ExAC:
17:37884149 C / T
gnomAD v2:
17-37884149-C-T
gnomAD v3:
17-39727896-C-T
gnomAD v4:
17-39727896-C-T
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39727896C>T , CM000679.2:g.39727896C>T | GRCh38 |
| NC_000017.10:g.37884149C>T , CM000679.1:g.37884149C>T | GRCh37 |
| NC_000017.9:g.35137675C>T | NCBI36 |
| NG_007503.1:g.44757C>T , LRG_724:g.44757C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269571.10:c.3620C>T MANE Select | ENSP00000269571.4:p.Pro1207Leu | |
| ENST00000269571.9:c.3620C>T | ENSP00000269571.4:p.Pro1207Leu | |
| ENST00000406381.6:c.3530C>T | ENSP00000385185.2:p.Pro1177Leu | |
| ENST00000445658.6:c.2792C>T | ENSP00000404047.2:p.Pro931Leu | |
| ENST00000541774.5:c.3575C>T | ENSP00000446466.1:p.Pro1192Leu | |
| ENST00000578373.5:c.*3410C>T | ENSP00000463427.1:n.*3410C>T | |
| ENST00000584450.5:c.*199C>T | ENSP00000463714.1:n.*199C>T | |
| ENST00000584601.5:c.3530C>T | ENSP00000462438.1:p.Pro1177Leu | |
| NM_001005862.2:c.3530C>T , LRG_724t1:c.3530C>T | NP_001005862.1:p.Pro1177Leu | |
| NM_001289936.1:c.3575C>T , LRG_724t4:c.3575C>T | NP_001276865.1:p.Pro1192Leu | |
| NM_001289937.1:c.*199C>T | NP_001276866.1:n.*199C>T | |
| NM_004448.3:c.3620C>T , LRG_724t2:c.3620C>T | NP_004439.2:p.Pro1207Leu | |
| NR_110535.1:n.3944C>T | ||
| XM_024450641.1:c.3758C>T | XP_024306409.1:p.Pro1253Leu | |
| XM_024450642.1:c.3713C>T | XP_024306410.1:p.Pro1238Leu | |
| XM_024450643.1:c.3668C>T | XP_024306411.1:p.Pro1223Leu | |
| NM_001005862.3:c.3530C>T | NP_001005862.1:p.Pro1177Leu | |
| NM_001289936.2:c.3575C>T | NP_001276865.1:p.Pro1192Leu | |
| NM_001289937.2:c.*199C>T | NP_001276866.1:n.*199C>T | |
| NM_001382782.1:c.3530C>T | NP_001369711.1:p.Pro1177Leu | |
| NM_001382783.1:c.3530C>T | NP_001369712.1:p.Pro1177Leu | |
| NM_001382784.1:c.3737C>T | NP_001369713.1:p.Pro1246Leu | |
| NM_001382785.1:c.3722C>T | NP_001369714.1:p.Pro1241Leu | |
| NM_001382786.1:c.3701C>T | NP_001369715.1:p.Pro1234Leu | |
| NM_001382787.1:c.3695C>T | NP_001369716.1:p.Pro1232Leu | |
| NM_001382788.1:c.3650C>T | NP_001369717.1:p.Pro1217Leu | |
| NM_001382789.1:c.3641C>T | NP_001369718.1:p.Pro1214Leu | |
| NM_001382790.1:c.3617C>T | NP_001369719.1:p.Pro1206Leu | |
| NM_001382791.1:c.3611C>T | NP_001369720.1:p.Pro1204Leu | |
| NM_001382792.1:c.3584C>T | NP_001369721.1:p.Pro1195Leu | |
| NM_001382793.1:c.3578C>T | NP_001369722.1:p.Pro1193Leu | |
| NM_001382794.1:c.3578C>T | NP_001369723.1:p.Pro1193Leu | |
| NM_001382795.1:c.3572C>T | NP_001369724.1:p.Pro1191Leu | |
| NM_001382796.1:c.3533C>T | NP_001369725.1:p.Pro1178Leu | |
| NM_001382797.1:c.3521C>T | NP_001369726.1:p.Pro1174Leu | |
| NM_001382798.1:c.3464C>T | NP_001369727.1:p.Pro1155Leu | |
| NM_001382799.1:c.3440C>T | NP_001369728.1:p.Pro1147Leu | |
| NM_001382800.1:c.3434C>T | NP_001369729.1:p.Pro1145Leu | |
| NM_001382801.1:c.3416C>T | NP_001369730.1:p.Pro1139Leu | |
| NM_001382802.1:c.3362C>T | NP_001369731.1:p.Pro1121Leu | |
| NM_001382803.1:c.*199C>T | NP_001369732.1:n.*199C>T | |
| NM_001382804.1:c.2792C>T | NP_001369733.1:p.Pro931Leu | |
| NM_001382805.1:c.2669C>T | NP_001369734.1:p.Pro890Leu | |
| NM_001382806.1:c.2582C>T | NP_001369735.1:p.Pro861Leu | |
| NM_004448.4:c.3620C>T MANE Select | NP_004439.2:p.Pro1207Leu | |
| NR_110535.2:n.3858C>T |