Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31394637A>G , CM000668.2:g.31394637A>G | GRCh38 |
| NC_000006.11:g.31362414A>G , CM000668.1:g.31362414A>G | GRCh37 |
| NC_000006.10:g.31470393A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_241998.3:n.1008T>C | ||
| NR_148222.1:n.998T>C | ||
| NR_148223.1:n.1031T>C |