Linked Data
dbSNP Id:
rs763337954
ExAC:
1:40539699 G / A
gnomAD v2:
1-40539699-G-A
gnomAD v4:
1-40074027-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.40074027G>A , CM000663.2:g.40074027G>A | GRCh38 |
| NC_000001.10:g.40539699G>A , CM000663.1:g.40539699G>A | GRCh37 |
| NC_000001.9:g.40312286G>A | NCBI36 |
| NG_009192.1:g.28444C>T , LRG_690:g.28444C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000433473.8:c.*34C>T | ENSP00000394863.4:n.*34C>T | |
| ENST00000439754.6:c.*34C>T | ENSP00000403207.2:n.*34C>T | |
| ENST00000449045.7:c.*34C>T | ENSP00000392293.2:n.*34C>T | |
| ENST00000530076.6:c.*34C>T | ENSP00000434007.1:n.*34C>T | |
| ENST00000530704.6:c.*578C>T | ENSP00000431655.1:n.*578C>T | |
| ENST00000641083.1:c.1045C>T | ||
| ENST00000641236.1:n.1192C>T | ||
| ENST00000641319.1:c.*165C>T | ENSP00000493128.1:n.*165C>T | |
| ENST00000641381.1:c.377C>T | ||
| ENST00000641471.1:c.*34C>T | ENSP00000493146.1:n.*34C>T | |
| ENST00000641691.1:c.*807C>T | ENSP00000492910.1:n.*807C>T | |
| ENST00000641924.1:c.*384C>T | ENSP00000493063.1:n.*384C>T | |
| ENST00000642050.2:c.*34C>T MANE Select | ENSP00000493153.1:n.*34C>T | |
| ENST00000372775.2:n.352C>T | ||
| ENST00000433473.7:c.*34C>T | ENSP00000394863.3:n.*34C>T | |
| ENST00000439754.5:c.568C>T | ENSP00000403207.1:n.568C>T | |
| ENST00000449045.6:c.*34C>T | ENSP00000392293.2:n.*34C>T | |
| ENST00000529905.5:c.*34C>T | ENSP00000432053.1:n.*34C>T | |
| ENST00000530704.5:c.*578C>T | ENSP00000431655.1:n.*578C>T | |
| NM_000310.3:c.*34C>T , LRG_690t1:c.*34C>T | NP_000301.1:n.*34C>T | |
| NM_001142604.1:c.*34C>T | NP_001136076.1:n.*34C>T | |
| XM_005271008.1:c.*34C>T | XP_005271065.1:n.*34C>T | |
| NM_001363695.1:c.*34C>T | NP_001350624.1:n.*34C>T | |
| NM_000310.4:c.*34C>T MANE Select | NP_000301.1:n.*34C>T | |
| NM_001142604.2:c.*34C>T | NP_001136076.1:n.*34C>T | |
| NM_001363695.2:c.*34C>T | NP_001350624.1:n.*34C>T |