Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.140114107G= , CM000667.2:g.140114107G= | GRCh38 |
| NC_000005.9:g.139493692G= , CM000667.1:g.139493692G= | GRCh37 |
| NC_000005.8:g.139473876G= | NCBI36 |
| NG_041813.1:g.4985G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000505703.2:c.-75G= | ENSP00000498560.1:n.-75G= | |
| ENST00000651386.1:c.-75G= | ENSP00000499133.1:n.-75G= | |
| ENST00000502351.1:n.349G= | ||
| ENST00000505703.1:n.391G= |