Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19954277C= , CM000670.2:g.19954277C= | GRCh38 |
| NC_000008.10:g.19811788C= , CM000670.1:g.19811788C= | GRCh37 |
| NC_000008.9:g.19856068C= | NCBI36 |
| NG_008855.1:g.20207C= | |
| NG_008855.2:g.57561C= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000650287.1:c.699C= MANE Select | ENSP00000497642.1:p.Tyr233= | |
| ENST00000311322.8:c.699C= | ENSP00000309757.6:p.Tyr233= | |
| NM_000237.2:c.699C= | NP_000228.1:p.Tyr233= | |
| NM_000237.3:c.699C= MANE Select | NP_000228.1:p.Tyr233= |