Linked Data
ClinVar Variation Id:
2048552
dbSNP Id:
rs1035817053
gnomAD v3:
6-63984599-T-C
gnomAD v4:
6-63984599-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.63984599T>C , CM000668.2:g.63984599T>C | GRCh38 |
| NC_000006.11:g.64694492T>C , CM000668.1:g.64694492T>C | GRCh37 |
| NC_000006.10:g.64752451T>C | NCBI36 |
| NG_023443.1:g.1727627A>G | |
| NG_023443.2:g.1727627A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000503581.6:c.6839A>G MANE Select | ENSP00000424243.1:p.Tyr2280Cys | |
| ENST00000370616.6:c.6839A>G | ENSP00000359650.2:p.Tyr2280Cys | |
| ENST00000370618.7:c.6839A>G | ENSP00000359652.4:p.Tyr2280Cys | |
| ENST00000370621.7:c.6839A>G | ENSP00000359655.3:p.Tyr2280Cys | |
| ENST00000398580.3:c.153A>G | ||
| ENST00000503581.5:c.6839A>G | ENSP00000424243.1:p.Tyr2280Cys | |
| NM_001142800.1:c.6839A>G | NP_001136272.1:p.Tyr2280Cys | |
| NM_001292009.1:c.6839A>G | NP_001278938.1:p.Tyr2280Cys | |
| XR_001744188.1:n.606+16315T>C | ||
| XR_001744189.1:n.129+16315T>C | ||
| XR_001744190.1:n.197+16315T>C | ||
| XR_001744191.1:n.607-1055T>C | ||
| NM_001142800.2:c.6839A>G MANE Select | NP_001136272.1:p.Tyr2280Cys | |
| NM_001292009.2:c.6839A>G | NP_001278938.1:p.Tyr2280Cys |