Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.102527880G>T , CM000673.2:g.102527880G>T | GRCh38 |
| NC_000011.9:g.102398611G>T , CM000673.1:g.102398611G>T | GRCh37 |
| NC_000011.8:g.101903821G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260227.5:c.212C>A MANE Select | ENSP00000260227.4:p.Thr71Asn | |
| ENST00000260227.4:c.212C>A | ENSP00000260227.4:p.Thr71Asn | |
| ENST00000531200.1:n.259C>A | ||
| ENST00000533366.5:n.262C>A | ||
| NM_002423.3:c.212C>A | NP_002414.1:p.Thr71Asn | |
| NM_002423.4:c.212C>A | NP_002414.1:p.Thr71Asn | |
| NM_002423.5:c.212C>A MANE Select | NP_002414.1:p.Thr71Asn |