Linked Data
ClinVar Variation Id:
381729
dbSNP Id:
rs533335580
ExAC:
4:187205309 C / T
gnomAD v2:
4-187205309-C-T
gnomAD v3:
4-186284155-C-T
gnomAD v4:
4-186284155-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186284155C>T , CM000666.2:g.186284155C>T | GRCh38 |
| NC_000004.11:g.187205309C>T , CM000666.1:g.187205309C>T | GRCh37 |
| NC_000004.10:g.187442303C>T | NCBI36 |
| NG_008051.1:g.23192C>T , LRG_583:g.23192C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000403665.7:c.1199C>T MANE Select | ENSP00000384957.2:p.Pro400Leu | |
| ENST00000264692.8:c.1037C>T | ENSP00000264692.5:p.Pro346Leu | |
| ENST00000403665.6:c.1199C>T | ENSP00000384957.2:p.Pro400Leu | |
| NM_000128.3:c.1199C>T , LRG_583t1:c.1199C>T | NP_000119.1:p.Pro400Leu | |
| XM_005262821.2:c.1202C>T | XP_005262878.1:p.Pro401Leu | |
| XM_005262822.2:c.1202C>T | XP_005262879.1:p.Pro401Leu | |
| XM_005262823.2:c.932C>T | XP_005262880.1:p.Pro311Leu | |
| XM_005262824.1:c.1202C>T | XP_005262881.1:p.Pro401Leu | |
| XM_006714137.1:c.1154C>T | XP_006714200.1:p.Pro385Leu | |
| XR_938706.1:n.1607C>T | ||
| XR_938707.1:n.1607C>T | ||
| XM_005262821.4:c.1202C>T | XP_005262878.1:p.Pro401Leu | |
| XM_005262822.4:c.1202C>T | XP_005262879.1:p.Pro401Leu | |
| XM_005262823.4:c.932C>T | XP_005262880.1:p.Pro311Leu | |
| XM_006714137.3:c.1154C>T | XP_006714200.1:p.Pro385Leu | |
| XM_017007884.2:c.*2171C>T | XP_016863373.1:n.*2171C>T | |
| XM_017007885.2:c.*67C>T | XP_016863374.1:n.*67C>T | |
| XR_001741172.2:n.1673C>T | ||
| NM_000128.4:c.1199C>T MANE Select | NP_000119.1:p.Pro400Leu |