Linked Data
ClinVar Variation Id:
265349
dbSNP Id:
rs183105855
ExAC:
14:88431926 T / C
gnomAD v2:
14-88431926-T-C
gnomAD v3:
14-87965582-T-C
gnomAD v4:
14-87965582-T-C
MyVariant Identifiers:
chr14:g.88431926T>C (hg19)
chr14:g.88431926_88431927delinsCA (hg19)
chr14:g.87965582T>C (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.87965582T>C , CM000676.2:g.87965582T>C | GRCh38 |
| NC_000014.8:g.88431926T>C , CM000676.1:g.88431926T>C | GRCh37 |
| NC_000014.7:g.87501679T>C | NCBI36 |
| NG_011853.2:g.32982A>G | |
| NG_011853.3:g.32982A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261304.7:c.956A>G MANE Select | ENSP00000261304.2:p.Tyr319Cys | |
| ENST00000261304.6:c.956A>G | ENSP00000261304.2:p.Tyr319Cys | |
| ENST00000393568.8:c.887A>G | ENSP00000377198.4:p.Tyr296Cys | |
| ENST00000393569.6:c.878A>G | ENSP00000377199.2:p.Tyr293Cys | |
| ENST00000474294.6:n.946A>G | ||
| ENST00000544807.6:c.788A>G | ENSP00000437513.2:p.Tyr263Cys | |
| ENST00000555000.5:c.323A>G | ENSP00000450472.1:p.Tyr108Cys | |
| ENST00000557316.5:c.*354A>G | ENSP00000452314.1:n.*354A>G | |
| ENST00000557520.1:n.42A>G | ||
| ENST00000622264.4:c.946A>G | ||
| NM_000153.3:c.956A>G | NP_000144.2:p.Tyr319Cys | |
| NM_001201401.1:c.887A>G | NP_001188330.1:p.Tyr296Cys | |
| NM_001201402.1:c.878A>G | NP_001188331.1:p.Tyr293Cys | |
| XM_011536618.1:c.788A>G | XP_011534920.1:p.Tyr263Cys | |
| XM_011536618.2:c.788A>G | XP_011534920.1:p.Tyr263Cys | |
| NM_000153.4:c.956A>G MANE Select | NP_000144.2:p.Tyr319Cys | |
| NM_001201401.2:c.887A>G | NP_001188330.1:p.Tyr296Cys | |
| NM_001201402.2:c.878A>G | NP_001188331.1:p.Tyr293Cys |