Linked Data
ClinVar Variation Id:
334286
ClinVar RCV Id:
RCV000264418
dbSNP Id:
rs561221026
gnomAD v2:
2-217277353-G-A
gnomAD v3:
2-216412630-G-A
gnomAD v4:
2-216412630-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.216412630G>A , CM000664.2:g.216412630G>A | GRCh38 |
| NC_000002.11:g.217277353G>A , CM000664.1:g.217277353G>A | GRCh37 |
| NC_000002.10:g.216985598G>A | NCBI36 |
| NG_009771.1:g.5217G>A , LRG_108:g.5217G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000425815.6:c.-183G>A | ENSP00000394410.2:n.-183G>A | |
| ENST00000430374.6:c.-96+27G>A | ENSP00000405077.2:n.-96+27G>A | |
| ENST00000444508.6:c.-200G>A | ENSP00000398969.2:n.-200G>A | |
| ENST00000697898.1:n.248G>A | ||
| ENST00000697899.1:c.-114G>A | ENSP00000513470.1:n.-114G>A | |
| ENST00000697900.1:n.163G>A | ||
| ENST00000697901.1:c.-114G>A | ENSP00000513471.1:n.-114G>A | |
| ENST00000697902.1:n.119G>A | ||
| ENST00000697903.1:c.-114G>A | ENSP00000513472.1:n.-114G>A | |
| ENST00000357276.9:c.-114G>A MANE Select | ENSP00000349823.4:n.-114G>A | |
| ENST00000357276.8:c.-114G>A | ENSP00000349823.4:n.-114G>A | |
| ENST00000425815.5:c.-183G>A | ENSP00000394410.1:n.-183G>A | |
| ENST00000430374.5:c.-96+27G>A | ENSP00000405077.1:n.-96+27G>A | |
| ENST00000444508.5:c.-200G>A | ENSP00000398969.1:n.-200G>A | |
| NM_014140.3:c.-114G>A , LRG_108t1:c.-114G>A | NP_054859.2:n.-114G>A | |
| XM_005246631.2:c.-96+27G>A | XP_005246688.1:n.-96+27G>A | |
| XM_005246632.1:c.-200G>A | XP_005246689.1:n.-200G>A | |
| XM_006712557.1:c.-114G>A | XP_006712620.1:n.-114G>A | |
| XM_005246632.2:c.-200G>A | XP_005246689.1:n.-200G>A | |
| NM_014140.4:c.-114G>A MANE Select | NP_054859.2:n.-114G>A |