Linked Data
ClinVar Variation Id:
517206
dbSNP Id:
rs745685973
ExAC:
6:35428343 T / C
gnomAD v2:
6-35428343-T-C
gnomAD v3:
6-35460566-T-C
gnomAD v4:
6-35460566-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.35460566T>C , CM000668.2:g.35460566T>C | GRCh38 |
| NC_000006.11:g.35428343T>C , CM000668.1:g.35428343T>C | GRCh37 |
| NC_000006.10:g.35536321T>C | NCBI36 |
| NG_011708.1:g.13206T>C , LRG_498:g.13206T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696264.1:c.1316+806T>C | ENSP00000512511.1:n.1316+806T>C | |
| ENST00000696265.1:c.1316+806T>C | ENSP00000512512.1:n.1316+806T>C | |
| ENST00000696266.1:c.976T>C | ENSP00000512513.1:p.Cys326Arg | |
| ENST00000696267.1:n.1598T>C | ||
| ENST00000696268.1:n.191T>C | ||
| ENST00000229769.3:c.1331T>C MANE Select | ENSP00000229769.2:p.Leu444Pro | |
| ENST00000648059.1:c.1331T>C | ENSP00000497902.1:p.Leu444Pro | |
| ENST00000229769.2:c.1331T>C | ENSP00000229769.2:p.Leu444Pro | |
| NM_021922.2:c.1331T>C , LRG_498t1:c.1331T>C | NP_068741.1:p.Leu444Pro | |
| XM_005248885.2:c.1310T>C | XP_005248942.1:p.Leu437Pro | |
| XM_005248886.2:c.1262T>C | XP_005248943.1:p.Leu421Pro | |
| XM_005248887.2:c.1331T>C | XP_005248944.1:p.Leu444Pro | |
| XM_005248888.2:c.1316+806T>C | XP_005248945.1:n.1316+806T>C | |
| XM_011514343.1:c.1037T>C | XP_011512645.1:p.Leu346Pro | |
| XM_011514344.1:c.1037T>C | XP_011512646.1:p.Leu346Pro | |
| XM_005248888.3:c.1316+806T>C | XP_005248945.1:n.1316+806T>C | |
| XM_011514343.2:c.1037T>C | XP_011512645.1:p.Leu346Pro | |
| XR_001743226.1:n.1523+806T>C | ||
| XR_002956267.1:n.1817+806T>C | ||
| NM_021922.3:c.1331T>C MANE Select | NP_068741.1:p.Leu444Pro |