Linked Data
ClinVar Variation Id:
194765
dbSNP Id:
rs191913664
ExAC:
1:5951029 G / A
gnomAD v2:
1-5951029-G-A
gnomAD v3:
1-5890969-G-A
gnomAD v4:
1-5890969-G-A
PubMed:
PMID:23891399
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.5890969G>A , CM000663.2:g.5890969G>A | GRCh38 |
| NC_000001.10:g.5951029G>A , CM000663.1:g.5951029G>A | GRCh37 |
| NC_000001.9:g.5873616G>A | NCBI36 |
| NG_011724.2:g.106503C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378156.9:c.2203C>T MANE Select | ENSP00000367398.4:p.Arg735Trp | |
| ENST00000378156.8:c.2203C>T | ENSP00000367398.4:p.Arg735Trp | |
| ENST00000378169.7:c.*1104C>T | ENSP00000367411.3:n.*1104C>T | |
| ENST00000466897.1:c.281C>T | ||
| ENST00000478423.6:n.1935C>T | ||
| ENST00000489180.6:c.2200C>T | ENSP00000423747.1:p.Arg734Trp | |
| ENST00000622020.4:c.2200C>T | ENSP00000481831.2:p.Arg734Trp | |
| NM_001291593.1:c.664C>T | NP_001278522.1:p.Arg222Trp | |
| NM_001291594.1:c.667C>T | NP_001278523.1:p.Arg223Trp | |
| NM_015102.4:c.2203C>T | NP_055917.1:p.Arg735Trp | |
| NR_111987.1:n.2468C>T | ||
| XM_006710563.2:c.2203C>T | XP_006710626.1:p.Arg735Trp | |
| XM_006710565.2:c.2203C>T | XP_006710628.1:p.Arg735Trp | |
| XM_011541213.1:c.2200C>T | XP_011539515.1:p.Arg734Trp | |
| XM_011541214.1:c.2203C>T | XP_011539516.1:p.Arg735Trp | |
| XM_011541215.1:c.2092C>T | XP_011539517.1:p.Arg698Trp | |
| XM_011541216.1:c.2203C>T | XP_011539518.1:p.Arg735Trp | |
| XM_011541217.1:c.2203C>T | XP_011539519.1:p.Arg735Trp | |
| XM_011541218.1:c.2203C>T | XP_011539520.1:p.Arg735Trp | |
| XM_011541219.1:c.2149C>T | XP_011539521.1:p.Arg717Trp | |
| XM_011541220.1:c.2203C>T | XP_011539522.1:p.Arg735Trp | |
| XR_946604.1:n.2241C>T | ||
| XR_946605.1:n.2182-3503C>T | ||
| XM_006710563.3:c.2203C>T | XP_006710626.1:p.Arg735Trp | |
| XM_011541216.2:c.2203C>T | XP_011539518.1:p.Arg735Trp | |
| XM_011541217.2:c.2203C>T | XP_011539519.1:p.Arg735Trp | |
| XM_011541218.2:c.2203C>T | XP_011539520.1:p.Arg735Trp | |
| XM_017000996.1:c.2200C>T | XP_016856485.1:p.Arg734Trp | |
| XM_017000997.1:c.2203C>T | XP_016856486.1:p.Arg735Trp | |
| XM_017000998.1:c.2203C>T | XP_016856487.1:p.Arg735Trp | |
| XM_017000999.1:c.1675C>T | XP_016856488.1:p.Arg559Trp | |
| XM_017001000.2:c.1675C>T | XP_016856489.1:p.Arg559Trp | |
| XM_017001001.1:c.1405C>T | XP_016856490.1:p.Arg469Trp | |
| XM_017001002.1:c.2203C>T | XP_016856491.1:p.Arg735Trp | |
| XM_017001003.1:c.664C>T | XP_016856492.1:p.Arg222Trp | |
| XR_001737114.1:n.2241C>T | ||
| XR_001737115.1:n.2241C>T | ||
| NM_015102.5:c.2203C>T MANE Select | NP_055917.1:p.Arg735Trp | |
| NM_001291593.2:c.664C>T | NP_001278522.1:p.Arg222Trp | |
| NM_001291594.2:c.667C>T | NP_001278523.1:p.Arg223Trp | |
| NR_111987.2:n.2420C>T |