Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.95324644C= , CM000669.2:g.95324644C= | GRCh38 |
| NC_000007.13:g.94953956C= , CM000669.1:g.94953956C= | GRCh37 |
| NC_000007.12:g.94791892C= | NCBI36 |
| NG_008779.1:g.4929G= | |
| NG_008779.2:g.5063G= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000222381.7:c.-169G= | ENSP00000222381.3:n.-169G= | |
| NM_000446.6:c.-169G= | NP_000437.3:n.-169G= |