Linked Data
ClinVar Variation Id:
488492
dbSNP Id:
rs753960624
ExAC:
11:71152429 A / G
gnomAD v2:
11-71152429-A-G
gnomAD v3:
11-71441383-A-G
gnomAD v4:
11-71441383-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.71441383A>G , CM000673.2:g.71441383A>G | GRCh38 |
| NC_000011.9:g.71152429A>G , CM000673.1:g.71152429A>G | GRCh37 |
| NC_000011.8:g.70830077A>G | NCBI36 |
| NG_012655.2:g.12049T>C , LRG_340:g.12049T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525346.6:c.470T>C | ENSP00000435707.3:p.Leu157Pro | |
| ENST00000526780.6:c.470T>C | ENSP00000435668.2:p.Leu157Pro | |
| ENST00000527316.6:c.296T>C | ENSP00000435047.2:p.Leu99Pro | |
| ENST00000682708.1:c.470T>C | ENSP00000506866.1:p.Leu157Pro | |
| ENST00000682880.1:c.470T>C | ENSP00000507520.1:p.Leu157Pro | |
| ENST00000683287.1:c.506T>C | ENSP00000507607.1:p.Leu169Pro | |
| ENST00000683714.1:c.470T>C | ENSP00000508207.1:p.Leu157Pro | |
| ENST00000683874.1:n.747T>C | ||
| ENST00000685320.1:c.-116T>C | ENSP00000509319.1:n.-116T>C | |
| ENST00000690257.1:c.374T>C | ENSP00000510750.1:p.Leu125Pro | |
| ENST00000355527.8:c.470T>C MANE Select | ENSP00000347717.4:p.Leu157Pro | |
| ENST00000355527.7:c.470T>C | ENSP00000347717.3:p.Leu157Pro | |
| ENST00000407721.6:c.470T>C | ENSP00000384739.2:p.Leu157Pro | |
| ENST00000526780.5:c.470T>C | ENSP00000435668.1:p.Leu157Pro | |
| ENST00000527316.5:c.374T>C | ENSP00000435047.1:p.Leu125Pro | |
| NM_001163817.1:c.470T>C | NP_001157289.1:p.Leu157Pro | |
| NM_001360.2:c.470T>C , LRG_340t1:c.470T>C | NP_001351.2:p.Leu157Pro | |
| XM_011544777.1:c.470T>C | XP_011543079.1:p.Leu157Pro | |
| XM_011544777.2:c.470T>C | XP_011543079.1:p.Leu157Pro | |
| NM_001163817.2:c.470T>C | NP_001157289.1:p.Leu157Pro | |
| NM_001360.3:c.470T>C MANE Select | NP_001351.2:p.Leu157Pro |