Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19954259T= , CM000670.2:g.19954259T= | GRCh38 |
| NC_000008.10:g.19811770T= , CM000670.1:g.19811770T= | GRCh37 |
| NC_000008.9:g.19856050T= | NCBI36 |
| NG_008855.1:g.20189T= | |
| NG_008855.2:g.57543T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650287.1:c.681T= MANE Select | ENSP00000497642.1:p.Val227= | |
| ENST00000311322.8:c.681T= | ENSP00000309757.6:p.Val227= | |
| NM_000237.2:c.681T= | NP_000228.1:p.Val227= | |
| NM_000237.3:c.681T= MANE Select | NP_000228.1:p.Val227= |