Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.147413434C= , CM000665.2:g.147413434C= | GRCh38 |
| NC_000003.11:g.147131221C= , CM000665.1:g.147131221C= | GRCh37 |
| NC_000003.10:g.148613911C= | NCBI36 |
| NG_015886.1:g.9041C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282928.5:c.1227C= MANE Select | ENSP00000282928.4:p.Ile409= | |
| ENST00000282928.4:c.1227C= | ENSP00000282928.4:p.Ile409= | |
| ENST00000472523.1:n.521+19492C= | ||
| ENST00000488404.5:c.293C= | ||
| NM_003412.3:c.1227C= | NP_003403.2:p.Ile409= | |
| NM_003412.4:c.1227C= MANE Select | NP_003403.2:p.Ile409= |