Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.190388055C>A , CM000665.2:g.190388055C>A | GRCh38 |
| NC_000003.11:g.190105844C>A , CM000665.1:g.190105844C>A | GRCh37 |
| NC_000003.10:g.191588538C>A | NCBI36 |
| NG_008149.1:g.5004C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264734.2:c.-65C>A | ENSP00000264734.2:n.-65C>A | |
| ENST00000468220.1:n.306+13452C>A | ||
| NM_006580.3:c.-65C>A | NP_006571.1:n.-65C>A | |
| NM_001378492.1:c.-93-182C>A | NP_001365421.1:n.-93-182C>A | |
| NM_001378493.1:c.-93-182C>A | NP_001365422.1:n.-93-182C>A |