Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.185968951C= , CM000665.2:g.185968951C= | GRCh38 |
| NC_000003.11:g.185686740C= , CM000665.1:g.185686740C= | GRCh37 |
| NC_000003.10:g.187169434C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306399.3:n.270+243C= | ||
| ENST00000416764.5:n.349+234C= | ||
| ENST00000422108.5:n.288+302C= | ||
| ENST00000423298.5:n.137-2664C= | ||
| ENST00000436375.5:n.342+243C= | ||
| ENST00000445507.1:n.279+302C= | ||
| NR_033752.2:n.349+234C= | ||
| NR_151491.1:n.137-2664C= |