Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.147413453A= , CM000665.2:g.147413453A= | GRCh38 |
| NC_000003.11:g.147131240A= , CM000665.1:g.147131240A= | GRCh37 |
| NC_000003.10:g.148613930A= | NCBI36 |
| NG_015886.1:g.9060A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282928.5:c.1246A= MANE Select | ENSP00000282928.4:p.Asn416= | |
| ENST00000282928.4:c.1246A= | ENSP00000282928.4:p.Asn416= | |
| ENST00000472523.1:n.521+19511A= | ||
| ENST00000488404.5:c.312A= | ||
| NM_003412.3:c.1246A= | NP_003403.2:p.Asn416= | |
| NM_003412.4:c.1246A= MANE Select | NP_003403.2:p.Asn416= |