Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.123034511T>A , CM000672.2:g.123034511T>A | GRCh38 |
| NC_000010.10:g.124794027T>A , CM000672.1:g.124794027T>A | GRCh37 |
| NC_000010.9:g.124784017T>A | NCBI36 |
| NG_008003.1:g.30599T>A , LRG_451:g.30599T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358776.7:c.198T>A MANE Select | ENSP00000357873.3:p.Ser66Arg | |
| ENST00000358776.6:c.198T>A | ENSP00000357873.3:p.Ser66Arg | |
| ENST00000368869.8:c.-8T>A | ENSP00000357862.4:n.-8T>A | |
| ENST00000411816.2:n.215T>A | ||
| NM_001609.3:c.198T>A , LRG_451t1:c.198T>A | NP_001600.1:p.Ser66Arg | |
| NM_001330174.1:c.-8T>A | NP_001317103.1:n.-8T>A | |
| NM_001330174.2:c.-8T>A | NP_001317103.1:n.-8T>A | |
| NM_001609.4:c.198T>A MANE Select | NP_001600.1:p.Ser66Arg | |
| NM_001330174.3:c.-8T>A | NP_001317103.1:n.-8T>A |