Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.34319423C>T , CM000679.2:g.34319423C>T | GRCh38 |
| NC_000017.10:g.32646442C>T , CM000679.1:g.32646442C>T | GRCh37 |
| NC_000017.9:g.29670555C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005623.2:c.-79C>T | NP_005614.2:n.-79C>T |
| ENST00000394620.1:c.-79C>T | ENSP00000378118.1:n.-79C>T |