Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.10368939G>T , CM000673.2:g.10368939G>T | GRCh38 |
| NC_000011.9:g.10390486G>T , CM000673.1:g.10390486G>T | GRCh37 |
| NC_000011.8:g.10347062G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295663.9:n.51-23343G>T | ||
| ENST00000527261.5:n.501+38230G>T | ||
| ENST00000532250.5:c.-6+38230G>T | ENSP00000432707.1:n.-6+38230G>T | |
| ENST00000532966.1:n.119+11548G>T | ||
| NR_103765.1:n.501+38230G>T |