Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17022693G= , CM000663.2:g.17022693G= | GRCh38 |
| NC_000001.10:g.17349188G= , CM000663.1:g.17349188G= | GRCh37 |
| NC_000001.9:g.17221775G= | NCBI36 |
| NG_012340.1:g.36478C= , LRG_316:g.36478C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463045.3:c.509C= | ENSP00000481376.2:p.Thr170= | |
| ENST00000491274.6:c.638C= | ENSP00000480482.2:p.Thr213= | |
| ENST00000375499.8:c.680C= MANE Select | ENSP00000364649.3:p.Thr227= | |
| ENST00000375499.7:c.680C= | ENSP00000364649.3:p.Thr227= | |
| ENST00000475049.5:n.105C= | ||
| ENST00000485092.5:n.344C= | ||
| ENST00000485515.5:n.614C= | ||
| NM_003000.2:c.680C= , LRG_316t1:c.680C= | NP_002991.2:p.Thr227= | |
| NM_003000.3:c.680C= MANE Select | NP_002991.2:p.Thr227= |