Linked Data
ClinVar Variation Id:
164063
ClinVar RCV Id:
RCV000151088
dbSNP Id:
rs727503184
gnomAD v4:
11-47335875-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47335875A>T , CM000673.2:g.47335875A>T | GRCh38 |
| NC_000011.9:g.47357426A>T , CM000673.1:g.47357426A>T | GRCh37 |
| NC_000011.8:g.47314002A>T | NCBI36 |
| NG_007667.1:g.21828T>A , LRG_386:g.21828T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000545968.6:c.2737+2T>A MANE Select | ENSP00000442795.1:n.2737+2T>A | |
| ENST00000256993.8:c.2737+2T>A | ENSP00000256993.5:n.2737+2T>A | |
| ENST00000399249.6:c.2737+2T>A | ENSP00000382193.2:n.2737+2T>A | |
| ENST00000544791.1:c.*242+2T>A | ENSP00000444259.1:n.*242+2T>A | |
| ENST00000545968.5:c.2737+2T>A | ENSP00000442795.1:n.2737+2T>A | |
| NM_000256.3:c.2737+2T>A , LRG_386t1:c.2737+2T>A MANE Select | NP_000247.2:n.2737+2T>A | |
| XM_011520117.1:c.2719+2T>A | XP_011518419.1:n.2719+2T>A | |
| XM_011520118.1:c.2656+2T>A | XP_011518420.1:n.2656+2T>A |