Linked Data
ClinVar Variation Id:
284054
dbSNP Id:
rs376939353
ExAC:
2:238243318 G / C
gnomAD v2:
2-238243318-G-C
gnomAD v3:
2-237334675-G-C
gnomAD v4:
2-237334675-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.237334675G>C , CM000664.2:g.237334675G>C | GRCh38 |
| NC_000002.11:g.238243318G>C , CM000664.1:g.238243318G>C | GRCh37 |
| NC_000002.10:g.237908057G>C | NCBI36 |
| NG_008676.1:g.84533C>G , LRG_473:g.84533C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000347401.8:c.1611-1127C>G | ||
| ENST00000353578.9:c.8562C>G | ENSP00000315873.4:p.Cys2854Trp | |
| ENST00000682957.1:c.1307C>G | ||
| ENST00000683348.1:c.48C>G | ENSP00000508058.1:p.Cys16Trp | |
| ENST00000295550.9:c.9180C>G MANE Select | ENSP00000295550.4:p.Cys3060Trp | |
| ENST00000295550.8:c.9180C>G | ENSP00000295550.4:p.Cys3060Trp | |
| ENST00000347401.7:c.7356C>G | ENSP00000315609.4:p.Cys2452Trp | |
| ENST00000353578.8:c.8562C>G | ENSP00000315873.4:p.Cys2854Trp | |
| ENST00000409809.5:c.8562C>G | ENSP00000386844.1:p.Cys2854Trp | |
| ENST00000472056.5:c.7359C>G | ENSP00000418285.1:p.Cys2453Trp | |
| ENST00000491769.1:n.5622C>G | ||
| ENST00000493608.1:n.112C>G | ||
| NM_004369.3:c.9180C>G , LRG_473t1:c.9180C>G | NP_004360.2:p.Cys3060Trp | |
| NM_057166.4:c.7359C>G | NP_476507.3:p.Cys2453Trp | |
| NM_057167.3:c.8562C>G | NP_476508.2:p.Cys2854Trp | |
| XM_005246065.1:c.8580C>G | XP_005246122.1:p.Cys2860Trp | |
| XM_005246066.1:c.7959C>G | XP_005246123.1:p.Cys2653Trp | |
| XM_006712253.1:c.8679C>G | XP_006712316.1:p.Cys2893Trp | |
| XM_011510574.1:c.9177C>G | XP_011508876.1:p.Cys3059Trp | |
| XM_011510575.1:c.6774C>G | XP_011508877.1:p.Cys2258Trp | |
| XM_017003304.1:c.6774C>G | XP_016858793.1:p.Cys2258Trp | |
| XM_024452684.1:c.7959C>G | XP_024308452.1:p.Cys2653Trp | |
| NM_004369.4:c.9180C>G MANE Select | NP_004360.2:p.Cys3060Trp | |
| NM_057166.5:c.7359C>G | NP_476507.3:p.Cys2453Trp | |
| NM_057167.4:c.8562C>G | NP_476508.2:p.Cys2854Trp |