Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.147413688A= , CM000665.2:g.147413688A= | GRCh38 |
| NC_000003.11:g.147131475A= , CM000665.1:g.147131475A= | GRCh37 |
| NC_000003.10:g.148614165A= | NCBI36 |
| NG_015886.1:g.9295A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282928.5:c.*137A= MANE Select | ENSP00000282928.4:n.*137A= | |
| ENST00000282928.4:c.*137A= | ENSP00000282928.4:n.*137A= | |
| ENST00000472523.1:n.521+19746A= | ||
| NM_003412.3:c.*137A= | NP_003403.2:n.*137A= | |
| NM_003412.4:c.*137A= MANE Select | NP_003403.2:n.*137A= |