Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240868680C= , CM000664.2:g.240868680C= | GRCh38 |
| NC_000002.11:g.241808097C= , CM000664.1:g.241808097C= | GRCh37 |
| NC_000002.10:g.241456770C= | NCBI36 |
| NG_008005.1:g.4936C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.3:c.-186C= | ENSP00000302620.3:n.-186C= | |
| XR_924060.1:n.405+1553G= |