Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.73322987T= , CM000677.2:g.73322987T= | GRCh38 |
| NC_000015.9:g.73615328T= , CM000677.1:g.73615328T= | GRCh37 |
| NC_000015.8:g.71402381T= | NCBI36 |
| NG_009063.1:g.51278A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261917.4:c.3106A= MANE Select | ENSP00000261917.3:p.Arg1036= | |
| ENST00000261917.3:c.3106A= | ENSP00000261917.3:p.Arg1036= | |
| NM_005477.2:c.3106A= | NP_005468.1:p.Arg1036= | |
| XM_011521148.1:c.1888A= | XP_011519450.1:p.Arg630= | |
| XM_011521148.2:c.1888A= | XP_011519450.1:p.Arg630= | |
| NM_005477.3:c.3106A= MANE Select | NP_005468.1:p.Arg1036= |