Linked Data
dbSNP Id:
rs10910018
gnomAD v2:
1-3651409-G-A
gnomAD v3:
1-3734845-G-A
gnomAD v4:
1-3734845-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.3734845G>A , CM000663.2:g.3734845G>A | GRCh38 |
| NC_000001.10:g.3651409G>A , CM000663.1:g.3651409G>A | GRCh37 |
| NC_000001.9:g.3641269G>A | NCBI36 |
| NG_017035.2:g.87281G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000713570.1:c.*1766G>A | ENSP00000518863.1:n.*1766G>A | |
| ENST00000713572.1:c.*1766G>A | ENSP00000518864.1:n.*1766G>A | |
| ENST00000378295.9:c.*1766G>A MANE Select | ENSP00000367545.4:n.*1766G>A | |
| ENST00000346387.8:c.*1766G>A | ENSP00000340740.4:n.*1766G>A | |
| ENST00000357733.7:c.*1766G>A | ENSP00000350366.3:n.*1766G>A | |
| ENST00000378288.8:c.*1766G>A | ENSP00000367537.4:n.*1766G>A | |
| ENST00000378295.8:c.*1766G>A | ENSP00000367545.4:n.*1766G>A | |
| ENST00000604074.5:c.*2083G>A | ENSP00000475143.1:n.*2083G>A | |
| NM_001126240.2:c.*1766G>A | NP_001119712.1:n.*1766G>A | |
| NM_001126241.2:c.*2083G>A | NP_001119713.1:n.*2083G>A | |
| NM_001126242.2:c.*2100G>A | NP_001119714.1:n.*2100G>A | |
| NM_001204184.1:c.*2083G>A | NP_001191113.1:n.*2083G>A | |
| NM_001204185.1:c.*2100G>A | NP_001191114.1:n.*2100G>A | |
| NM_001204186.1:c.*2083G>A | NP_001191115.1:n.*2083G>A | |
| NM_001204187.1:c.*1766G>A | NP_001191116.1:n.*1766G>A | |
| NM_001204188.1:c.*1766G>A | NP_001191117.1:n.*1766G>A | |
| NM_001204189.1:c.*2083G>A | NP_001191118.1:n.*2083G>A | |
| NM_001204190.1:c.*1766G>A | NP_001191119.1:n.*1766G>A | |
| NM_001204191.1:c.*1766G>A | NP_001191120.1:n.*1766G>A | |
| NM_001204192.1:c.*1766G>A | NP_001191121.1:n.*1766G>A | |
| NM_005427.3:c.*1766G>A | NP_005418.1:n.*1766G>A | |
| XM_011542064.1:c.*1766G>A | XP_011540366.1:n.*1766G>A | |
| NM_005427.4:c.*1766G>A MANE Select | NP_005418.1:n.*1766G>A | |
| NM_001126240.3:c.*1766G>A | NP_001119712.1:n.*1766G>A | |
| NM_001126241.3:c.*2083G>A | NP_001119713.1:n.*2083G>A | |
| NM_001126242.3:c.*2100G>A | NP_001119714.1:n.*2100G>A | |
| NM_001204184.2:c.*2083G>A | NP_001191113.1:n.*2083G>A | |
| NM_001204185.2:c.*2100G>A | NP_001191114.1:n.*2100G>A | |
| NM_001204186.2:c.*2083G>A | NP_001191115.1:n.*2083G>A | |
| NM_001204189.2:c.*2083G>A | NP_001191118.1:n.*2083G>A | |
| NM_001204190.2:c.*1766G>A | NP_001191119.1:n.*1766G>A | |
| NM_001204191.2:c.*1766G>A | NP_001191120.1:n.*1766G>A | |
| NM_001204192.2:c.*1766G>A | NP_001191121.1:n.*1766G>A | |
| NM_001204187.2:c.*1766G>A | NP_001191116.1:n.*1766G>A | |
| NM_001204188.2:c.*1766G>A | NP_001191117.1:n.*1766G>A |