Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.135132010G>T , CM000667.2:g.135132010G>T | GRCh38 |
| NC_000005.9:g.134467700G>T , CM000667.1:g.134467700G>T | GRCh37 |
| NC_000005.8:g.134495599G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NM_001277348.1:c.-492-42032G>T | NP_001264277.1:n.-492-42032G>T | |
| XR_948807.2:n.377C>A | ||
| NR_161235.1:n.337-42032G>T |