Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.140114074T= , CM000667.2:g.140114074T= | GRCh38 |
| NC_000005.9:g.139493659T= , CM000667.1:g.139493659T= | GRCh37 |
| NC_000005.8:g.139473843T= | NCBI36 |
| NG_041813.1:g.4952T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000505703.2:c.-108T= | ENSP00000498560.1:n.-108T= | |
| ENST00000651386.1:c.-108T= | ENSP00000499133.1:n.-108T= | |
| ENST00000502351.1:n.316T= | ||
| ENST00000505703.1:n.358T= |