Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.34008154C= , CM000667.2:g.34008154C= | GRCh38 |
| NC_000005.9:g.34008259C= , CM000667.1:g.34008259C= | GRCh37 |
| NC_000005.8:g.34044016C= | NCBI36 |
| NG_016211.1:g.4962G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382079.3:c.690-2255G= | ENSP00000371511.3:n.690-2255G= | |
| NR_037951.1:n.765-2255G= |