Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.172769749A= , CM000667.2:g.172769749A= | GRCh38 |
| NC_000005.9:g.172196752A= , CM000667.1:g.172196752A= | GRCh37 |
| NC_000005.8:g.172129358A= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000239223.4:c.559T= MANE Select | ENSP00000239223.3:p.Tyr187= | |
| ENST00000239223.3:c.559T= | ENSP00000239223.3:p.Tyr187= | |
| NM_004417.3:c.559T= | NP_004408.1:p.Tyr187= | |
| NM_004417.4:c.559T= MANE Select | NP_004408.1:p.Tyr187= |