Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.147413371G= , CM000665.2:g.147413371G= | GRCh38 |
| NC_000003.11:g.147131158G= , CM000665.1:g.147131158G= | GRCh37 |
| NC_000003.10:g.148613848G= | NCBI36 |
| NG_015886.1:g.8978G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282928.5:c.1164G= MANE Select | ENSP00000282928.4:p.Ser388= | |
| ENST00000282928.4:c.1164G= | ENSP00000282928.4:p.Ser388= | |
| ENST00000472523.1:n.521+19429G= | ||
| ENST00000488404.5:c.230G= | ||
| NM_003412.3:c.1164G= | NP_003403.2:p.Ser388= | |
| NM_003412.4:c.1164G= MANE Select | NP_003403.2:p.Ser388= |