Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.8302118G>T , CM000664.2:g.8302118G>T | GRCh38 |
| NC_000002.11:g.8442248G>T , CM000664.1:g.8442248G>T | GRCh37 |
| NC_000002.10:g.8359699G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_034135.1:n.330-2325C>A | |
| NR_152741.1:n.454-2325C>A |