Linked Data
dbSNP Id:
rs1858691744
gnomAD v4:
11-102527879-A-G
MyVariant Identifiers:
chr11:g.102398610A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.102527879A>G , CM000673.2:g.102527879A>G | GRCh38 |
| NC_000011.9:g.102398610A>G , CM000673.1:g.102398610A>G | GRCh37 |
| NC_000011.8:g.101903820A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260227.5:c.213T>C MANE Select | ENSP00000260227.4:p.Thr71= | |
| ENST00000260227.4:c.213T>C | ENSP00000260227.4:p.Thr71= | |
| ENST00000531200.1:n.260T>C | ||
| ENST00000533366.5:n.263T>C | ||
| NM_002423.3:c.213T>C | NP_002414.1:p.Thr71= | |
| NM_002423.4:c.213T>C | NP_002414.1:p.Thr71= | |
| NM_002423.5:c.213T>C MANE Select | NP_002414.1:p.Thr71= |