Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39665295C= , CM000679.2:g.39665295C= | GRCh38 |
| NC_000017.10:g.37821548C= , CM000679.1:g.37821548C= | GRCh37 |
| NC_000017.9:g.35075074C= | NCBI36 |
| NG_008892.1:g.4950C= , LRG_210:g.4950C= | |
| NG_042278.1:g.2315C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309889.2:c.-65C= | ENSP00000312624.2:n.-65C= |