Linked Data
ClinVar Variation Id:
56208
dbSNP Id:
rs386833659
gnomAD v3:
1-40078659-C-A
gnomAD v4:
1-40078659-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.40078659C>A , CM000663.2:g.40078659C>A | GRCh38 |
| NC_000001.10:g.40544331C>A , CM000663.1:g.40544331C>A | GRCh37 |
| NC_000001.9:g.40316918C>A | NCBI36 |
| NG_009192.1:g.23812G>T , LRG_690:g.23812G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000433473.8:c.625-1G>T | ENSP00000394863.4:n.625-1G>T | |
| ENST00000439754.6:c.628-1G>T | ENSP00000403207.2:n.628-1G>T | |
| ENST00000449045.7:c.319-1G>T | ENSP00000392293.2:n.319-1G>T | |
| ENST00000527311.7:c.397-1G>T | ENSP00000436695.3:n.397-1G>T | |
| ENST00000530076.6:c.-30-1G>T | ENSP00000434007.1:n.-30-1G>T | |
| ENST00000530704.6:c.*251-1G>T | ENSP00000431655.1:n.*251-1G>T | |
| ENST00000641083.1:c.606-1G>T | ||
| ENST00000641236.1:n.865-1G>T | ||
| ENST00000641319.1:c.628-1G>T | ENSP00000493128.1:n.628-1G>T | |
| ENST00000641381.1:c.149-1746G>T | ||
| ENST00000641471.1:c.715-1G>T | ENSP00000493146.1:n.715-1G>T | |
| ENST00000641691.1:c.*480-1G>T | ENSP00000492910.1:n.*480-1G>T | |
| ENST00000641924.1:c.*57-1G>T | ENSP00000493063.1:n.*57-1G>T | |
| ENST00000642050.2:c.628-1G>T MANE Select | ENSP00000493153.1:n.628-1G>T | |
| ENST00000372775.2:n.25-1G>T | ||
| ENST00000372779.8:c.715-1G>T | ENSP00000361865.4:n.715-1G>T | |
| ENST00000433473.7:c.628-1G>T | ENSP00000394863.3:n.628-1G>T | |
| ENST00000439754.5:c.313-1G>T | ENSP00000403207.1:n.313-1G>T | |
| ENST00000449045.6:c.319-1G>T | ENSP00000392293.2:n.319-1G>T | |
| ENST00000527311.6:c.403-1G>T | ENSP00000436695.2:n.403-1G>T | |
| ENST00000529905.5:c.628-1G>T | ENSP00000432053.1:n.628-1G>T | |
| ENST00000530076.5:c.-30-1G>T | ENSP00000434007.1:n.-30-1G>T | |
| ENST00000530704.5:c.*251-1G>T | ENSP00000431655.1:n.*251-1G>T | |
| NM_000310.3:c.628-1G>T , LRG_690t1:c.628-1G>T | NP_000301.1:n.628-1G>T | |
| NM_001142604.1:c.319-1G>T | NP_001136076.1:n.319-1G>T | |
| XM_005271008.1:c.628-1G>T | XP_005271065.1:n.628-1G>T | |
| NM_001363695.1:c.628-1G>T | NP_001350624.1:n.628-1G>T | |
| NM_000310.4:c.628-1G>T MANE Select | NP_000301.1:n.628-1G>T | |
| NM_001142604.2:c.319-1G>T | NP_001136076.1:n.319-1G>T | |
| NM_001363695.2:c.628-1G>T | NP_001350624.1:n.628-1G>T |