Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.21882519T= , CM000685.2:g.21882519T= | GRCh38 |
| NC_000023.10:g.21900637T= , CM000685.1:g.21900637T= | GRCh37 |
| NC_000023.9:g.21810558T= | NCBI36 |
| NG_012797.1:g.47982T= | |
| NG_012797.2:g.47982T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_015884.4:c.1424T= MANE Select | NP_056968.1:p.Phe475= |
| ENST00000379484.10:c.1424T= MANE Select | ENSP00000368798.5:p.Phe475= |
| NM_015884.3:c.1424T= | NP_056968.1:p.Phe475= |
| ENST00000379484.9:c.1424T= | ENSP00000368798.5:p.Phe475= |