Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19954337A>G , CM000670.2:g.19954337A>G | GRCh38 |
| NC_000008.10:g.19811848A>G , CM000670.1:g.19811848A>G | GRCh37 |
| NC_000008.9:g.19856128A>G | NCBI36 |
| NG_008855.1:g.20267A>G | |
| NG_008855.2:g.57621A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650287.1:c.759A>G MANE Select | ENSP00000497642.1:p.Ala253= | |
| ENST00000311322.8:c.759A>G | ENSP00000309757.6:p.Ala253= | |
| NM_000237.2:c.759A>G | NP_000228.1:p.Ala253= | |
| NM_000237.3:c.759A>G MANE Select | NP_000228.1:p.Ala253= |