Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.26207391G>A , CM000675.2:g.26207391G>A | GRCh38 |
| NC_000013.10:g.26781528G>A , CM000675.1:g.26781528G>A | GRCh37 |
| NC_000013.9:g.25679528G>A | NCBI36 |
| NG_017042.2:g.19981C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_183045.1:c.408+8083C>T | NP_898866.1:n.408+8083C>T |
| ENST00000468480.5:n.768+8083C>T | |
| XM_011535178.1:c.408+8083C>T | XP_011533480.1:n.408+8083C>T |
| XM_011535178.2:c.408+8083C>T | XP_011533480.1:n.408+8083C>T |