Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.147413340C>A , CM000665.2:g.147413340C>A | GRCh38 |
| NC_000003.11:g.147131127C>A , CM000665.1:g.147131127C>A | GRCh37 |
| NC_000003.10:g.148613817C>A | NCBI36 |
| NG_015886.1:g.8947C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282928.5:c.1147-14C>A MANE Select | ENSP00000282928.4:n.1147-14C>A | |
| ENST00000282928.4:c.1147-14C>A | ENSP00000282928.4:n.1147-14C>A | |
| ENST00000472523.1:n.521+19398C>A | ||
| ENST00000488404.5:c.213-14C>A | ||
| NM_003412.3:c.1147-14C>A | NP_003403.2:n.1147-14C>A | |
| NM_003412.4:c.1147-14C>A MANE Select | NP_003403.2:n.1147-14C>A |