Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.101231117G= , CM000665.2:g.101231117G= | GRCh38 |
| NC_000003.11:g.100949961G= , CM000665.1:g.100949961G= | GRCh37 |
| NC_000003.10:g.102432651G= | NCBI36 |
| NG_028284.1:g.94459C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_016247.4:c.3262C= MANE Select | NP_057331.2:p.Arg1088= |
| ENST00000193391.8:c.3262C= MANE Select | ENSP00000193391.6:p.Arg1088= |
| NM_016247.3:c.3262C= | NP_057331.2:p.Arg1088= |
| ENST00000193391.7:c.3262C= | ENSP00000193391.6:p.Arg1088= |
| XM_011512871.1:c.2968C= | XP_011511173.1:p.Arg990= |
| XM_011512872.1:c.2851C= | XP_011511174.1:p.Arg951= |