Linked Data
ClinVar Variation Id:
302240
dbSNP Id:
rs189037
gnomAD v2:
11-108093833-G-A
gnomAD v3:
11-108223106-G-A
gnomAD v4:
11-108223106-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108223106G>A , CM000673.2:g.108223106G>A | GRCh38 |
| NC_000011.9:g.108093833G>A , CM000673.1:g.108093833G>A | GRCh37 |
| NC_000011.8:g.107599043G>A | NCBI36 |
| NG_009830.1:g.5275G>A , LRG_135:g.5275G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000452508.7:c.-199G>A | ENSP00000388058.2:n.-199G>A | |
| ENST00000683914.2:c.-111G>A | ENSP00000507649.1:n.-111G>A | |
| ENST00000713593.1:c.-111G>A | ENSP00000518889.1:n.-111G>A | |
| ENST00000683174.1:n.40G>A | ||
| ENST00000683468.1:c.-4519G>A | ENSP00000508178.1:n.-4519G>A | |
| ENST00000683488.1:n.63G>A | ||
| ENST00000527805.6:c.-111G>A | ENSP00000435747.2:n.-111G>A | |
| ENST00000675595.1:c.-111G>A | ENSP00000502563.1:n.-111G>A | |
| ENST00000675843.1:c.-111G>A MANE Select | ENSP00000501606.1:n.-111G>A | |
| ENST00000278616.8:c.-111G>A | ENSP00000278616.4:n.-111G>A | |
| ENST00000527805.5:c.-111G>A | ENSP00000435747.1:n.-111G>A | |
| ENST00000527891.5:c.-111G>A | ENSP00000433955.1:n.-111G>A | |
| ENST00000530958.5:c.-4519G>A | ENSP00000483338.1:n.-4519G>A | |
| ENST00000532931.5:c.-185G>A | ENSP00000432318.1:n.-185G>A | |
| NM_000051.3:c.-111G>A , LRG_135t1:c.-111G>A | NP_000042.3:n.-111G>A | |
| XM_005271561.3:c.-199G>A | XP_005271618.2:n.-199G>A | |
| XM_011542841.1:c.-902G>A | XP_011541143.1:n.-902G>A | |
| XM_011542842.1:c.-111G>A | XP_011541144.1:n.-111G>A | |
| XM_011542843.1:c.-111G>A | XP_011541145.1:n.-111G>A | |
| XM_011542846.1:c.-111G>A | XP_011541148.1:n.-111G>A | |
| NM_001351834.1:c.-199G>A | NP_001338763.1:n.-199G>A | |
| NM_001351835.1:c.-111G>A | NP_001338764.1:n.-111G>A | |
| XM_011542842.3:c.-111G>A | XP_011541144.1:n.-111G>A | |
| XM_011542843.2:c.-111G>A | XP_011541145.1:n.-111G>A | |
| XM_011542844.3:c.-1133G>A | XP_011541146.1:n.-1133G>A | |
| XM_017017791.1:c.-111G>A | XP_016873280.1:n.-111G>A | |
| XM_017017792.2:c.-111G>A | XP_016873281.1:n.-111G>A | |
| XR_002957150.1:n.623G>A | ||
| NM_001351834.2:c.-199G>A | NP_001338763.1:n.-199G>A | |
| NM_000051.4:c.-111G>A MANE Select | NP_000042.3:n.-111G>A | |
| NM_001351835.2:c.-111G>A | NP_001338764.1:n.-111G>A |