Linked Data
ClinVar Variation Id:
2075280
ClinVar RCV Id:
RCV002963419
dbSNP Id:
rs979623061
gnomAD v4:
3-33114559-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.33114559C>T , CM000665.2:g.33114559C>T | GRCh38 |
| NC_000003.11:g.33156051C>T , CM000665.1:g.33156051C>T | GRCh37 |
| NC_000003.10:g.33131055C>T | NCBI36 |
| NG_008122.1:g.5602C>T , LRG_4:g.5602C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320954.11:c.471+11C>T MANE Select | ENSP00000323696.5:n.471+11C>T | |
| ENST00000320954.10:c.471+11C>T | ENSP00000323696.5:n.471+11C>T | |
| ENST00000449224.1:c.471+11C>T | ENSP00000409997.1:n.471+11C>T | |
| NM_006371.4:c.471+11C>T , LRG_4t1:c.471+11C>T | NP_006362.1:n.471+11C>T | |
| NM_006371.5:c.471+11C>T MANE Select | NP_006362.1:n.471+11C>T | |
| NM_001393363.1:c.471+11C>T | NP_001380292.1:n.471+11C>T | |
| NM_001393364.1:c.471+11C>T | NP_001380293.1:n.471+11C>T | |
| NM_001393365.1:c.471+11C>T | NP_001380294.1:n.471+11C>T |