Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32009139C>G , CM000668.2:g.32009139C>G | GRCh38 |
| NC_000006.11:g.31976916C>G , CM000668.1:g.31976916C>G | GRCh37 |
| NC_000006.10:g.32084894C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_001284.2:n.2384G>C | |
| ENST00000507684.1:n.1833G>C |