Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.817402C>T , CM000663.2:g.817402C>T | GRCh38 |
| NC_000001.10:g.752782C>T , CM000663.1:g.752782C>T | GRCh37 |
| NC_000001.9:g.742645C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000634337.2:n.127+10268G>A | ||
| ENST00000635509.2:n.100+10268G>A | ||
| ENST00000447500.4:n.311G>A | ||
| NR_103536.1:n.32C>T |