Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240868778T= , CM000664.2:g.240868778T= | GRCh38 |
| NC_000002.11:g.241808195T= , CM000664.1:g.241808195T= | GRCh37 |
| NC_000002.10:g.241456868T= | NCBI36 |
| NG_008005.1:g.5034T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.3:c.-88T= | ENSP00000302620.3:n.-88T= | |
| NM_000030.2:c.-88T= | NP_000021.1:n.-88T= | |
| XR_924060.1:n.405+1455A= |