Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.37840540C>T , CM000667.2:g.37840540C>T | GRCh38 |
| NC_000005.9:g.37840642C>T , CM000667.1:g.37840642C>T | GRCh37 |
| NC_000005.8:g.37876399C>T | NCBI36 |
| NG_011675.2:g.4141G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_103441.1:n.103C>T | |
| NR_103441.2:n.103C>T | |
| NR_145476.1:n.155+502C>T |