Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.86792095C>A , CM000673.2:g.86792095C>A | GRCh38 |
| NC_000011.9:g.86503137C>A , CM000673.1:g.86503137C>A | GRCh37 |
| NC_000011.8:g.86180785C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001293180.1:c.-14+900C>A | NP_001280109.1:n.-14+900C>A |
| NM_001293180.2:c.-14+900C>A | NP_001280109.1:n.-14+900C>A |
| ENST00000527521.1:c.-14+900C>A | ENSP00000435951.1:n.-14+900C>A |