Linked Data
ClinVar Variation Id:
302239
ClinVar RCV Id:
RCV000261166
dbSNP Id:
rs879725890
gnomAD v2:
11-108093758-G-A
gnomAD v3:
11-108223031-G-A
gnomAD v4:
11-108223031-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108223031G>A , CM000673.2:g.108223031G>A | GRCh38 |
| NC_000011.9:g.108093758G>A , CM000673.1:g.108093758G>A | GRCh37 |
| NC_000011.8:g.107598968G>A | NCBI36 |
| NG_009830.1:g.5200G>A , LRG_135:g.5200G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000452508.7:c.-274G>A | ENSP00000388058.2:n.-274G>A | |
| ENST00000683914.2:c.-186G>A | ENSP00000507649.1:n.-186G>A | |
| ENST00000278616.8:c.-186G>A | ENSP00000278616.4:n.-186G>A | |
| ENST00000527805.5:c.-186G>A | ENSP00000435747.1:n.-186G>A | |
| NM_000051.3:c.-186G>A , LRG_135t1:c.-186G>A | NP_000042.3:n.-186G>A | |
| XM_011542843.1:c.-186G>A | XP_011541145.1:n.-186G>A | |
| XM_011542846.1:c.-186G>A | XP_011541148.1:n.-186G>A | |
| NM_001351834.1:c.-274G>A | NP_001338763.1:n.-274G>A | |
| NM_001351835.1:c.-186G>A | NP_001338764.1:n.-186G>A | |
| XM_011542842.3:c.-186G>A | XP_011541144.1:n.-186G>A | |
| XM_011542843.2:c.-186G>A | XP_011541145.1:n.-186G>A | |
| XM_011542844.3:c.-1208G>A | XP_011541146.1:n.-1208G>A | |
| XM_017017791.1:c.-186G>A | XP_016873280.1:n.-186G>A | |
| XM_017017792.2:c.-186G>A | XP_016873281.1:n.-186G>A | |
| XR_002957150.1:n.548G>A |