Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.129055929C>A , CM000669.2:g.129055929C>A | GRCh38 |
| NC_000007.13:g.128695983C>A , CM000669.1:g.128695983C>A | GRCh37 |
| NC_000007.12:g.128483219C>A | NCBI36 |
| NG_023428.1:g.4245G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_002187.3:n.707C>A | |
| ENST00000635637.1:n.707C>A |