Linked Data
ClinVar Variation Id:
1231226
ClinVar RCV Id:
RCV001609882
dbSNP Id:
rs11570119
gnomAD v2:
11-47353311-G-T
gnomAD v3:
11-47331760-G-T
gnomAD v4:
11-47331760-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47331760G>T , CM000673.2:g.47331760G>T | GRCh38 |
| NC_000011.9:g.47353311G>T , CM000673.1:g.47353311G>T | GRCh37 |
| NC_000011.8:g.47309887G>T | NCBI36 |
| NG_007667.1:g.25943C>A , LRG_386:g.25943C>A | |
| NG_029462.1:g.67385G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000545968.6:c.*27-44C>A MANE Select | ENSP00000442795.1:n.*27-44C>A | |
| ENST00000256993.8:c.*27-44C>A | ENSP00000256993.5:n.*27-44C>A | |
| ENST00000399249.6:c.*27-44C>A | ENSP00000382193.2:n.*27-44C>A | |
| ENST00000545968.5:c.*27-44C>A | ENSP00000442795.1:n.*27-44C>A | |
| NM_000256.3:c.*27-44C>A , LRG_386t1:c.*27-44C>A MANE Select | NP_000247.2:n.*27-44C>A | |
| XM_011520117.1:c.*27-44C>A | XP_011518419.1:n.*27-44C>A | |
| XM_011520118.1:c.*27-44C>A | XP_011518420.1:n.*27-44C>A |