Linked Data
ClinVar Variation Id:
334281
ClinVar RCV Id:
RCV000304414
dbSNP Id:
rs79352134
gnomAD v2:
2-217277267-G-A
gnomAD v3:
2-216412544-G-A
gnomAD v4:
2-216412544-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.216412544G>A , CM000664.2:g.216412544G>A | GRCh38 |
| NC_000002.11:g.217277267G>A , CM000664.1:g.217277267G>A | GRCh37 |
| NC_000002.10:g.216985512G>A | NCBI36 |
| NG_009771.1:g.5131G>A , LRG_108:g.5131G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000430374.6:c.-155G>A | ENSP00000405077.2:n.-155G>A | |
| ENST00000444508.6:c.-286G>A | ENSP00000398969.2:n.-286G>A | |
| ENST00000697898.1:n.162G>A | ||
| ENST00000697899.1:c.-200G>A | ENSP00000513470.1:n.-200G>A | |
| ENST00000697900.1:n.77G>A | ||
| ENST00000697901.1:c.-200G>A | ENSP00000513471.1:n.-200G>A | |
| ENST00000697902.1:n.33G>A | ||
| ENST00000697903.1:c.-200G>A | ENSP00000513472.1:n.-200G>A | |
| ENST00000357276.9:c.-200G>A MANE Select | ENSP00000349823.4:n.-200G>A | |
| ENST00000357276.8:c.-200G>A | ENSP00000349823.4:n.-200G>A | |
| ENST00000430374.5:c.-155G>A | ENSP00000405077.1:n.-155G>A | |
| ENST00000444508.5:c.-286G>A | ENSP00000398969.1:n.-286G>A | |
| NM_014140.3:c.-200G>A , LRG_108t1:c.-200G>A | NP_054859.2:n.-200G>A | |
| XM_005246631.2:c.-155G>A | XP_005246688.1:n.-155G>A | |
| XM_005246632.1:c.-286G>A | XP_005246689.1:n.-286G>A | |
| XM_006712557.1:c.-200G>A | XP_006712620.1:n.-200G>A | |
| NM_014140.4:c.-200G>A MANE Select | NP_054859.2:n.-200G>A |