Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.147413674T>A , CM000665.2:g.147413674T>A | GRCh38 |
| NC_000003.11:g.147131461T>A , CM000665.1:g.147131461T>A | GRCh37 |
| NC_000003.10:g.148614151T>A | NCBI36 |
| NG_015886.1:g.9281T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282928.5:c.*123T>A MANE Select | ENSP00000282928.4:n.*123T>A | |
| ENST00000282928.4:c.*123T>A | ENSP00000282928.4:n.*123T>A | |
| ENST00000472523.1:n.521+19732T>A | ||
| ENST00000488404.5:c.533T>A | ||
| NM_003412.3:c.*123T>A | NP_003403.2:n.*123T>A | |
| NM_003412.4:c.*123T>A MANE Select | NP_003403.2:n.*123T>A |