Linked Data
ClinVar Variation Id:
414916
dbSNP Id:
rs375366137
ExAC:
1:10428516 C / T
gnomAD v2:
1-10428516-C-T
gnomAD v3:
1-10368458-C-T
gnomAD v4:
1-10368458-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.10368458C>T , CM000663.2:g.10368458C>T | GRCh38 |
| NC_000001.10:g.10428516C>T , CM000663.1:g.10428516C>T | GRCh37 |
| NC_000001.9:g.10351103C>T | NCBI36 |
| NG_008069.1:g.162753C>T , LRG_252:g.162753C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696502.1:c.4816-9C>T | ENSP00000512668.1:n.4816-9C>T | |
| ENST00000696503.1:c.4678-9C>T | ENSP00000512669.1:n.4678-9C>T | |
| ENST00000696504.1:c.4678-9C>T | ENSP00000512670.1:n.4678-9C>T | |
| ENST00000676179.1:c.4753-9C>T MANE Select | ENSP00000502065.1:n.4753-9C>T | |
| ENST00000263934.10:c.4615-9C>T | ENSP00000263934.6:n.4615-9C>T | |
| ENST00000377081.5:c.4753-9C>T | ENSP00000366284.1:n.4753-9C>T | |
| ENST00000377086.5:c.4753-9C>T | ENSP00000366290.1:n.4753-9C>T | |
| ENST00000470616.1:n.484-9C>T | ||
| ENST00000620295.2:c.4711-9C>T | ENSP00000478500.1:n.4711-9C>T | |
| ENST00000622724.3:c.4675-9C>T | ENSP00000480063.1:n.4675-9C>T | |
| ENST00000635499.1:c.798-9C>T | ||
| NM_015074.3:c.4615-9C>T , LRG_252t1:c.4615-9C>T | NP_055889.2:n.4615-9C>T | |
| NM_001365951.1:c.4753-9C>T | NP_001352880.1:n.4753-9C>T | |
| NM_001365952.1:c.4753-9C>T | NP_001352881.1:n.4753-9C>T | |
| NM_001365951.3:c.4753-9C>T MANE Select | NP_001352880.1:n.4753-9C>T |