Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.3154488G>T , CM000668.2:g.3154488G>T | GRCh38 |
| NC_000006.11:g.3154722G>T , CM000668.1:g.3154722G>T | GRCh37 |
| NC_000006.10:g.3099721G>T | NCBI36 |
| NG_042223.1:g.8062C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333628.4:c.713C>A MANE Select | ENSP00000369703.2:p.Thr238Asn | |
| ENST00000679400.1:n.769C>A | ||
| ENST00000679907.1:n.1101C>A | ||
| ENST00000680036.1:n.1495C>A | ||
| ENST00000680967.1:n.1803C>A | ||
| ENST00000333628.3:c.713C>A | ENSP00000369703.2:p.Thr238Asn | |
| NM_001069.2:c.713C>A | NP_001060.1:p.Thr238Asn | |
| NM_001310315.1:c.458C>A | NP_001297244.1:p.Thr153Asn | |
| NM_001069.3:c.713C>A MANE Select | NP_001060.1:p.Thr238Asn | |
| NM_001310315.2:c.458C>A | NP_001297244.1:p.Thr153Asn |