Linked Data
dbSNP Id:
rs963846722
gnomAD v2:
20-44746948-C-G
gnomAD v3:
20-46118309-C-G
gnomAD v4:
20-46118309-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.46118309C>G , CM000682.2:g.46118309C>G | GRCh38 |
| NC_000020.10:g.44746948C>G , CM000682.1:g.44746948C>G | GRCh37 |
| NC_000020.9:g.44180355C>G | NCBI36 |
| NG_007279.1:g.5043C>G , LRG_40:g.5043C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695669.1:n.39C>G | ||
| ENST00000695670.1:n.25C>G | ||
| ENST00000372285.7:c.-35C>G | ENSP00000361359.3:n.-35C>G | |
| ENST00000620709.4:c.-35C>G | ENSP00000484074.1:n.-35C>G | |
| NM_001250.5:c.-35C>G | NP_001241.1:n.-35C>G | |
| NM_001302753.1:c.-35C>G | NP_001289682.1:n.-35C>G | |
| NM_152854.3:c.-35C>G | NP_690593.1:n.-35C>G | |
| NR_126502.1:n.56C>G | ||
| XM_005260617.2:c.-35C>G | XP_005260674.1:n.-35C>G | |
| XM_005260619.2:c.-35C>G | XP_005260676.1:n.-35C>G | |
| XM_011529109.1:c.-35C>G | XP_011527411.1:n.-35C>G | |
| XR_936660.1:n.60C>G | ||
| NM_001322421.1:c.-35C>G | NP_001309350.1:n.-35C>G | |
| NM_001322422.1:c.-35C>G | NP_001309351.1:n.-35C>G | |
| NM_001362758.1:c.-35C>G | NP_001349687.1:n.-35C>G | |
| NR_136327.1:n.56C>G | ||
| XM_005260619.3:c.-35C>G | XP_005260676.1:n.-35C>G | |
| XM_011529109.2:c.-35C>G | XP_011527411.1:n.-35C>G | |
| XM_017028135.1:c.-35C>G | XP_016883624.1:n.-35C>G | |
| XM_017028136.1:c.-35C>G | XP_016883625.1:n.-35C>G |