Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.185969219G>A , CM000665.2:g.185969219G>A | GRCh38 |
| NC_000003.11:g.185687008G>A , CM000665.1:g.185687008G>A | GRCh37 |
| NC_000003.10:g.187169702G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306399.3:n.270+511G>A | ||
| ENST00000416764.5:n.349+502G>A | ||
| ENST00000422108.5:n.288+570G>A | ||
| ENST00000423298.5:n.137-2396G>A | ||
| ENST00000436375.5:n.342+511G>A | ||
| ENST00000445507.1:n.279+570G>A | ||
| NR_033752.2:n.349+502G>A | ||
| NR_151491.1:n.137-2396G>A |