Linked Data
ClinVar Variation Id:
283406
dbSNP Id:
rs368568929
ExAC:
2:238243289 T / C
gnomAD v2:
2-238243289-T-C
gnomAD v3:
2-237334646-T-C
gnomAD v4:
2-237334646-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.237334646T>C , CM000664.2:g.237334646T>C | GRCh38 |
| NC_000002.11:g.238243289T>C , CM000664.1:g.238243289T>C | GRCh37 |
| NC_000002.10:g.237908028T>C | NCBI36 |
| NG_008676.1:g.84562A>G , LRG_473:g.84562A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000347401.8:c.1611-1098A>G | ||
| ENST00000353578.9:c.8591A>G | ENSP00000315873.4:p.Tyr2864Cys | |
| ENST00000682957.1:c.1336A>G | ||
| ENST00000683348.1:c.77A>G | ENSP00000508058.1:p.Tyr26Cys | |
| ENST00000295550.9:c.9209A>G MANE Select | ENSP00000295550.4:p.Tyr3070Cys | |
| ENST00000295550.8:c.9209A>G | ENSP00000295550.4:p.Tyr3070Cys | |
| ENST00000347401.7:c.7385A>G | ENSP00000315609.4:p.Tyr2462Cys | |
| ENST00000353578.8:c.8591A>G | ENSP00000315873.4:p.Tyr2864Cys | |
| ENST00000409809.5:c.8591A>G | ENSP00000386844.1:p.Tyr2864Cys | |
| ENST00000472056.5:c.7388A>G | ENSP00000418285.1:p.Tyr2463Cys | |
| ENST00000491769.1:n.5651A>G | ||
| ENST00000493608.1:n.141A>G | ||
| NM_004369.3:c.9209A>G , LRG_473t1:c.9209A>G | NP_004360.2:p.Tyr3070Cys | |
| NM_057166.4:c.7388A>G | NP_476507.3:p.Tyr2463Cys | |
| NM_057167.3:c.8591A>G | NP_476508.2:p.Tyr2864Cys | |
| XM_005246065.1:c.8609A>G | XP_005246122.1:p.Tyr2870Cys | |
| XM_005246066.1:c.7988A>G | XP_005246123.1:p.Tyr2663Cys | |
| XM_006712253.1:c.8708A>G | XP_006712316.1:p.Tyr2903Cys | |
| XM_011510574.1:c.9206A>G | XP_011508876.1:p.Tyr3069Cys | |
| XM_011510575.1:c.6803A>G | XP_011508877.1:p.Tyr2268Cys | |
| XM_017003304.1:c.6803A>G | XP_016858793.1:p.Tyr2268Cys | |
| XM_024452684.1:c.7988A>G | XP_024308452.1:p.Tyr2663Cys | |
| NM_004369.4:c.9209A>G MANE Select | NP_004360.2:p.Tyr3070Cys | |
| NM_057166.5:c.7388A>G | NP_476507.3:p.Tyr2463Cys | |
| NM_057167.4:c.8591A>G | NP_476508.2:p.Tyr2864Cys |