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