Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31394533C>A , CM000668.2:g.31394533C>A | GRCh38 |
| NC_000006.11:g.31362310C>A , CM000668.1:g.31362310C>A | GRCh37 |
| NC_000006.10:g.31470289C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| XR_241998.3:n.1112G>T | ||
| NR_148222.1:n.1102G>T | ||
| NR_148223.1:n.1135G>T |