Linked Data
dbSNP Id:
rs377380526
gnomAD v2:
1-40539973-G-A
gnomAD v3:
1-40074301-G-A
gnomAD v4:
1-40074301-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.40074301G>A , CM000663.2:g.40074301G>A | GRCh38 |
| NC_000001.10:g.40539973G>A , CM000663.1:g.40539973G>A | GRCh37 |
| NC_000001.9:g.40312560G>A | NCBI36 |
| NG_009192.1:g.28170C>T , LRG_690:g.28170C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000433473.8:c.796-118C>T | ENSP00000394863.4:n.796-118C>T | |
| ENST00000439754.6:c.727-118C>T | ENSP00000403207.2:n.727-118C>T | |
| ENST00000449045.7:c.490-118C>T | ENSP00000392293.2:n.490-118C>T | |
| ENST00000527311.7:c.568-118C>T | ENSP00000436695.3:n.568-118C>T | |
| ENST00000530076.6:c.142-118C>T | ENSP00000434007.1:n.142-118C>T | |
| ENST00000530704.6:c.*422-118C>T | ENSP00000431655.1:n.*422-118C>T | |
| ENST00000641083.1:c.889-118C>T | ||
| ENST00000641236.1:n.1036-118C>T | ||
| ENST00000641319.1:c.*9-118C>T | ENSP00000493128.1:n.*9-118C>T | |
| ENST00000641381.1:c.221-118C>T | ||
| ENST00000641471.1:c.886-118C>T | ENSP00000493146.1:n.886-118C>T | |
| ENST00000641691.1:c.*651-118C>T | ENSP00000492910.1:n.*651-118C>T | |
| ENST00000641924.1:c.*228-118C>T | ENSP00000493063.1:n.*228-118C>T | |
| ENST00000642050.2:c.799-118C>T MANE Select | ENSP00000493153.1:n.799-118C>T | |
| ENST00000372775.2:n.196-118C>T | ||
| ENST00000433473.7:c.799-118C>T | ENSP00000394863.3:n.799-118C>T | |
| ENST00000439754.5:c.412-118C>T | ENSP00000403207.1:n.412-118C>T | |
| ENST00000449045.6:c.490-118C>T | ENSP00000392293.2:n.490-118C>T | |
| ENST00000527311.6:c.574-118C>T | ENSP00000436695.2:n.574-118C>T | |
| ENST00000529905.5:c.799-118C>T | ENSP00000432053.1:n.799-118C>T | |
| ENST00000530076.5:c.142-118C>T | ENSP00000434007.1:n.142-118C>T | |
| ENST00000530704.5:c.*422-118C>T | ENSP00000431655.1:n.*422-118C>T | |
| NM_000310.3:c.799-118C>T , LRG_690t1:c.799-118C>T | NP_000301.1:n.799-118C>T | |
| NM_001142604.1:c.490-118C>T | NP_001136076.1:n.490-118C>T | |
| XM_005271008.1:c.727-118C>T | XP_005271065.1:n.727-118C>T | |
| NM_001363695.1:c.727-118C>T | NP_001350624.1:n.727-118C>T | |
| NM_000310.4:c.799-118C>T MANE Select | NP_000301.1:n.799-118C>T | |
| NM_001142604.2:c.490-118C>T | NP_001136076.1:n.490-118C>T | |
| NM_001363695.2:c.727-118C>T | NP_001350624.1:n.727-118C>T |