Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.47350173A>G , CM000672.2:g.47350173A>G | GRCh38 |
| NC_000010.10:g.48389189T>C , CM000672.1:g.48389189T>C | GRCh37 |
| NC_000010.9:g.48009195T>C | NCBI36 |
| NG_029718.1:g.6803A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000584701.2:c.1689A>G MANE Select | ENSP00000463151.1:p.Thr563= | |
| ENST00000584701.1:c.1689A>G | ENSP00000463151.1:p.Thr563= | |
| NM_002900.2:c.1689A>G | NP_002891.1:p.Thr563= | |
| NM_002900.3:c.1689A>G MANE Select | NP_002891.1:p.Thr563= |