Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.185968970T>C , CM000665.2:g.185968970T>C | GRCh38 |
| NC_000003.11:g.185686759T>C , CM000665.1:g.185686759T>C | GRCh37 |
| NC_000003.10:g.187169453T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306399.3:n.270+262T>C | ||
| ENST00000416764.5:n.349+253T>C | ||
| ENST00000422108.5:n.288+321T>C | ||
| ENST00000423298.5:n.137-2645T>C | ||
| ENST00000436375.5:n.342+262T>C | ||
| ENST00000445507.1:n.279+321T>C | ||
| NR_033752.2:n.349+253T>C | ||
| NR_151491.1:n.137-2645T>C |