Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67436255T= , CM000678.2:g.67436255T= | GRCh38 |
| NC_000016.9:g.67470158T= , CM000678.1:g.67470158T= | GRCh37 |
| NC_000016.8:g.66027659T= | NCBI36 |
| NG_011482.1:g.49932A= | |
| NG_016549.1:g.10123T= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000326152.6:c.671T= MANE Select | ENSP00000316786.5:p.Met224= | |
| ENST00000326152.5:c.671T= | ENSP00000316786.5:p.Met224= | |
| ENST00000567684.2:n.534T= | ||
| NM_000196.3:c.671T= | NP_000187.3:p.Met224= | |
| NM_000196.4:c.671T= MANE Select | NP_000187.3:p.Met224= |