Linked Data
ClinVar Variation Id:
291569
ClinVar RCV Id:
RCV001173611
dbSNP Id:
rs200470260
ExAC:
1:10399812 A / T
gnomAD v2:
1-10399812-A-T
gnomAD v3:
1-10339754-A-T
gnomAD v4:
1-10339754-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.10339754A>T , CM000663.2:g.10339754A>T | GRCh38 |
| NC_000001.10:g.10399812A>T , CM000663.1:g.10399812A>T | GRCh37 |
| NC_000001.9:g.10322399A>T | NCBI36 |
| NG_008069.1:g.134049A>T , LRG_252:g.134049A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696502.1:c.3285-15A>T | ENSP00000512668.1:n.3285-15A>T | |
| ENST00000696503.1:c.3348-15A>T | ENSP00000512669.1:n.3348-15A>T | |
| ENST00000696504.1:c.3348-15A>T | ENSP00000512670.1:n.3348-15A>T | |
| ENST00000676179.1:c.3423-15A>T MANE Select | ENSP00000502065.1:n.3423-15A>T | |
| ENST00000263934.10:c.3285-15A>T | ENSP00000263934.6:n.3285-15A>T | |
| ENST00000377081.5:c.3423-15A>T | ENSP00000366284.1:n.3423-15A>T | |
| ENST00000377086.5:c.3423-15A>T | ENSP00000366290.1:n.3423-15A>T | |
| ENST00000620295.2:c.3381-15A>T | ENSP00000478500.1:n.3381-15A>T | |
| ENST00000622724.3:c.3345-15A>T | ENSP00000480063.1:n.3345-15A>T | |
| NM_015074.3:c.3285-15A>T , LRG_252t1:c.3285-15A>T | NP_055889.2:n.3285-15A>T | |
| NM_001365951.1:c.3423-15A>T | NP_001352880.1:n.3423-15A>T | |
| NM_001365952.1:c.3423-15A>T | NP_001352881.1:n.3423-15A>T | |
| NM_001365951.3:c.3423-15A>T MANE Select | NP_001352880.1:n.3423-15A>T |