Linked Data
ClinVar Variation Id:
2033914
ClinVar RCV Id:
RCV002872735
dbSNP Id:
rs749796555
ExAC:
12:120127972 A / G
gnomAD v2:
12-120127972-A-G
gnomAD v3:
12-119690167-A-G
gnomAD v4:
12-119690167-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.119690167A>G , CM000674.2:g.119690167A>G | GRCh38 |
| NC_000012.11:g.120127972A>G , CM000674.1:g.120127972A>G | GRCh37 |
| NC_000012.10:g.118612355A>G | NCBI36 |
| NG_029792.1:g.192124T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392521.7:c.6170T>C MANE Select | ENSP00000376306.2:p.Leu2057Pro | |
| ENST00000545913.6:n.8330T>C | ||
| ENST00000676693.1:n.3496T>C | ||
| ENST00000676833.1:n.5530T>C | ||
| ENST00000676849.1:c.4787T>C | ENSP00000503214.1:p.Leu1596Pro | |
| ENST00000677438.1:c.*5276T>C | ENSP00000504095.1:n.*5276T>C | |
| ENST00000677738.1:n.3367T>C | ||
| ENST00000677742.1:n.1480T>C | ||
| ENST00000677812.1:c.*5390T>C | ENSP00000504400.1:n.*5390T>C | |
| ENST00000677849.1:c.*5273T>C | ENSP00000503820.1:n.*5273T>C | |
| ENST00000677993.1:c.4772T>C | ENSP00000503765.1:p.Leu1591Pro | |
| ENST00000678087.1:c.4661T>C | ENSP00000503863.1:p.Leu1554Pro | |
| ENST00000678236.1:n.7627T>C | ||
| ENST00000678494.1:c.1227-3133T>C | ENSP00000503854.1:n.1227-3133T>C | |
| ENST00000678652.1:c.4787T>C | ENSP00000504849.1:p.Leu1596Pro | |
| ENST00000678677.1:c.4574T>C | ENSP00000503253.1:p.Leu1525Pro | |
| ENST00000678708.1:n.899T>C | ||
| ENST00000679120.1:c.*4177T>C | ENSP00000502891.1:n.*4177T>C | |
| ENST00000679249.1:c.4814T>C | ENSP00000503976.1:p.Leu1605Pro | |
| ENST00000679285.1:n.3663T>C | ||
| ENST00000261833.11:c.6044T>C | ENSP00000261833.7:p.Leu2015Pro | |
| ENST00000392520.2:c.4882T>C | ||
| ENST00000392521.6:c.6170T>C | ENSP00000376306.2:p.Leu2057Pro | |
| ENST00000537607.5:n.4897T>C | ||
| ENST00000545913.5:n.6041T>C | ||
| ENST00000612548.4:c.1442-2103T>C | ENSP00000482318.1:n.1442-2103T>C | |
| NM_001206999.1:c.6170T>C | NP_001193928.1:p.Leu2057Pro | |
| NM_007174.2:c.6044T>C | NP_009105.1:p.Leu2015Pro | |
| XM_006719206.2:c.6125T>C | XP_006719269.1:p.Leu2042Pro | |
| XM_011537783.1:c.6215T>C | XP_011536085.1:p.Leu2072Pro | |
| XM_011537784.1:c.6212T>C | XP_011536086.1:p.Leu2071Pro | |
| XM_011537785.1:c.6170T>C | XP_011536087.1:p.Leu2057Pro | |
| XM_011537786.1:c.6089T>C | XP_011536088.1:p.Leu2030Pro | |
| XM_011537787.1:c.5999T>C | XP_011536089.1:p.Leu2000Pro | |
| XM_011537788.1:c.5996T>C | XP_011536090.1:p.Leu1999Pro | |
| XM_011537789.1:c.4877T>C | XP_011536091.1:p.Leu1626Pro | |
| XM_011537790.1:c.4877T>C | XP_011536092.1:p.Leu1626Pro | |
| XM_011537791.1:c.4817T>C | XP_011536093.1:p.Leu1606Pro | |
| XM_011537792.1:c.4598T>C | XP_011536094.1:p.Leu1533Pro | |
| XM_011537790.2:c.4877T>C | XP_011536092.1:p.Leu1626Pro | |
| XM_011537791.2:c.4817T>C | XP_011536093.1:p.Leu1606Pro | |
| XM_011537792.2:c.4598T>C | XP_011536094.1:p.Leu1533Pro | |
| XM_017018735.1:c.6167T>C | XP_016874224.1:p.Leu2056Pro | |
| XM_017018736.1:c.6167T>C | XP_016874225.1:p.Leu2056Pro | |
| XM_017018737.1:c.6122T>C | XP_016874226.1:p.Leu2041Pro | |
| XM_017018738.1:c.4691T>C | XP_016874227.1:p.Leu1564Pro | |
| XM_017018739.1:c.4598T>C | XP_016874228.1:p.Leu1533Pro | |
| NM_001206999.2:c.6170T>C MANE Select | NP_001193928.1:p.Leu2057Pro | |
| NM_007174.3:c.6044T>C | NP_009105.1:p.Leu2015Pro |