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