Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.137567007G>T , CM000667.2:g.137567007G>T | GRCh38 |
| NC_000005.9:g.136902696G>T , CM000667.1:g.136902696G>T | GRCh37 |
| NC_000005.8:g.136930595G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000503916.1:n.182+31191C>A |