Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.143429896A= , CM000670.2:g.143429896A= | GRCh38 |
| NC_000008.10:g.144512066A= , CM000670.1:g.144512066A= | GRCh37 |
| NC_000008.9:g.144583209A= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_201589.4:c.511T= MANE Select | NP_963883.2:p.Phe171= |
| ENST00000333480.3:c.511T= MANE Select | ENSP00000328364.2:p.Phe171= |
| NM_201589.3:c.511T= | NP_963883.2:p.Phe171= |
| ENST00000333480.2:c.511T= | ENSP00000328364.2:p.Phe171= |
| ENST00000528185.1:n.3T= |