Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17022709A>T , CM000663.2:g.17022709A>T | GRCh38 |
| NC_000001.10:g.17349204A>T , CM000663.1:g.17349204A>T | GRCh37 |
| NC_000001.9:g.17221791A>T | NCBI36 |
| NG_012340.1:g.36462T>A , LRG_316:g.36462T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463045.3:c.493T>A | ENSP00000481376.2:p.Ser165Thr | |
| ENST00000491274.6:c.622T>A | ENSP00000480482.2:p.Ser208Thr | |
| ENST00000375499.8:c.664T>A MANE Select | ENSP00000364649.3:p.Ser222Thr | |
| ENST00000375499.7:c.664T>A | ENSP00000364649.3:p.Ser222Thr | |
| ENST00000475049.5:n.89T>A | ||
| ENST00000485092.5:n.328T>A | ||
| ENST00000485515.5:n.598T>A | ||
| NM_003000.2:c.664T>A , LRG_316t1:c.664T>A | NP_002991.2:p.Ser222Thr | |
| NM_003000.3:c.664T>A MANE Select | NP_002991.2:p.Ser222Thr |