Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17022713A= , CM000663.2:g.17022713A= | GRCh38 |
| NC_000001.10:g.17349208A= , CM000663.1:g.17349208A= | GRCh37 |
| NC_000001.9:g.17221795A= | NCBI36 |
| NG_012340.1:g.36458T= , LRG_316:g.36458T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463045.3:c.489T= | ENSP00000481376.2:p.Ile163= | |
| ENST00000491274.6:c.618T= | ENSP00000480482.2:p.Ile206= | |
| ENST00000375499.8:c.660T= MANE Select | ENSP00000364649.3:p.Ile220= | |
| ENST00000375499.7:c.660T= | ENSP00000364649.3:p.Ile220= | |
| ENST00000475049.5:n.85T= | ||
| ENST00000485092.5:n.324T= | ||
| ENST00000485515.5:n.594T= | ||
| NM_003000.2:c.660T= , LRG_316t1:c.660T= | NP_002991.2:p.Ile220= | |
| NM_003000.3:c.660T= MANE Select | NP_002991.2:p.Ile220= |