Linked Data
ClinVar Variation Id:
183435
ClinVar RCV Id:
RCV000162253
dbSNP Id:
rs786201022
gnomAD v4:
20-2470762-G-T
PubMed:
PMID:25047197
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.2470762G>T , CM000682.2:g.2470762G>T | GRCh38 |
| NC_000020.10:g.2451408G>T , CM000682.1:g.2451408G>T | GRCh37 |
| NC_000020.9:g.2399408G>T | NCBI36 |
| NG_042057.1:g.5092C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000688423.1:n.26C>A | ||
| ENST00000688775.1:n.26C>A | ||
| ENST00000689440.1:n.28C>A | ||
| ENST00000693393.1:n.28C>A | ||
| ENST00000381342.7:c.-72C>A MANE Select | ENSP00000370746.3:n.-72C>A | |
| ENST00000339610.10:c.-72C>A | ENSP00000342305.7:n.-72C>A | |
| ENST00000381342.6:c.-72C>A | ENSP00000370746.2:n.-72C>A | |
| ENST00000438552.6:c.-72C>A | ENSP00000412566.2:n.-72C>A | |
| ENST00000461548.1:c.305-3004C>A | ENSP00000456213.1:n.305-3004C>A | |
| NM_003091.3:c.-72C>A | NP_003082.1:n.-72C>A | |
| NM_198216.1:c.-72C>A | NP_937859.1:n.-72C>A | |
| NM_003091.4:c.-72C>A MANE Select | NP_003082.1:n.-72C>A | |
| NM_198216.2:c.-72C>A | NP_937859.1:n.-72C>A |