Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.95324637T= , CM000669.2:g.95324637T= | GRCh38 |
| NC_000007.13:g.94953949T= , CM000669.1:g.94953949T= | GRCh37 |
| NC_000007.12:g.94791885T= | NCBI36 |
| NG_008779.1:g.4936A= | |
| NG_008779.2:g.5070A= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000446.6:c.-162A= | NP_000437.3:n.-162A= |
| ENST00000222381.7:c.-162A= | ENSP00000222381.3:n.-162A= |