Linked Data
ClinVar Variation Id:
863169
ClinVar RCV Id:
RCV001070072
dbSNP Id:
rs1842200895
gnomAD v4:
10-62814138-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.62814138G>A , CM000672.2:g.62814138G>A | GRCh38 |
| NC_000010.10:g.64573898G>A , CM000672.1:g.64573898G>A | GRCh37 |
| NC_000010.9:g.64243904G>A | NCBI36 |
| NG_008936.2:g.110763C>T , LRG_239:g.110763C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000411732.4:c.350C>T | ENSP00000387634.1:p.Pro117Leu | |
| ENST00000439032.6:c.1040C>T | ENSP00000509775.1:n.1040C>T | |
| ENST00000637191.2:c.500C>T | ENSP00000490154.2:p.Pro167Leu | |
| ENST00000690143.1:c.*432C>T | ENSP00000510306.1:n.*432C>T | |
| ENST00000691610.1:c.539C>T | ENSP00000509830.1:p.Pro180Leu | |
| ENST00000242480.4:c.500C>T MANE Select | ENSP00000242480.3:p.Pro167Leu | |
| ENST00000411732.3:c.350C>T | ENSP00000387634.1:p.Pro117Leu | |
| ENST00000639815.1:n.109-1176C>T | ||
| ENST00000242480.3:c.500C>T | ENSP00000242480.3:p.Pro167Leu | |
| ENST00000411732.2:c.350C>T | ENSP00000387634.1:p.Pro117Leu | |
| ENST00000439032.4:c.500C>T | ENSP00000402040.1:p.Pro167Leu | |
| NM_000399.3:c.500C>T , LRG_239t1:c.500C>T | NP_000390.2:p.Pro167Leu | |
| NM_001136177.1:c.500C>T | NP_001129649.1:p.Pro167Leu | |
| NM_001136178.1:c.500C>T | NP_001129650.1:p.Pro167Leu | |
| NM_001136179.1:c.350C>T | NP_001129651.1:p.Pro117Leu | |
| XM_011539427.1:c.539C>T | XP_011537729.1:p.Pro180Leu | |
| XM_011539428.1:c.350C>T | XP_011537730.1:p.Pro117Leu | |
| XM_011539429.1:c.350C>T | XP_011537731.1:p.Pro117Leu | |
| NM_000399.4:c.500C>T | NP_000390.2:p.Pro167Leu | |
| NM_001136177.2:c.500C>T | NP_001129649.1:p.Pro167Leu | |
| NM_001136179.2:c.350C>T | NP_001129651.1:p.Pro117Leu | |
| NM_001321037.1:c.350C>T | NP_001307966.1:p.Pro117Leu | |
| NM_000399.5:c.500C>T MANE Select | NP_000390.2:p.Pro167Leu | |
| NM_001136177.3:c.500C>T | NP_001129649.1:p.Pro167Leu | |
| NM_001136179.3:c.350C>T | NP_001129651.1:p.Pro117Leu | |
| NM_001321037.2:c.350C>T | NP_001307966.1:p.Pro117Leu | |
| NM_001136178.2:c.500C>T | NP_001129650.1:p.Pro167Leu |