Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67436132G= , CM000678.2:g.67436132G= | GRCh38 |
| NC_000016.9:g.67470035G= , CM000678.1:g.67470035G= | GRCh37 |
| NC_000016.8:g.66027536G= | NCBI36 |
| NG_011482.1:g.50055C= | |
| NG_016549.1:g.10000G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326152.6:c.654G= MANE Select | ENSP00000316786.5:p.Gly218= | |
| ENST00000326152.5:c.654G= | ENSP00000316786.5:p.Gly218= | |
| ENST00000566606.1:c.632G= | ENSP00000473429.1:n.632G= | |
| ENST00000567684.2:n.517G= | ||
| NM_000196.3:c.654G= | NP_000187.3:p.Gly218= | |
| NM_000196.4:c.654G= MANE Select | NP_000187.3:p.Gly218= |