Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67436100C= , CM000678.2:g.67436100C= | GRCh38 |
| NC_000016.9:g.67470003C= , CM000678.1:g.67470003C= | GRCh37 |
| NC_000016.8:g.66027504C= | NCBI36 |
| NG_011482.1:g.50087G= | |
| NG_016549.1:g.9968C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000196.4:c.622C= MANE Select | NP_000187.3:p.Arg208= |
| ENST00000326152.6:c.622C= MANE Select | ENSP00000316786.5:p.Arg208= |
| NM_000196.3:c.622C= | NP_000187.3:p.Arg208= |
| ENST00000326152.5:c.622C= | ENSP00000316786.5:p.Arg208= |
| ENST00000566606.1:c.600C= | ENSP00000473429.1:n.600C= |
| ENST00000567684.2:n.485C= |