Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.140114099G= , CM000667.2:g.140114099G= | GRCh38 |
| NC_000005.9:g.139493684G= , CM000667.1:g.139493684G= | GRCh37 |
| NC_000005.8:g.139473868G= | NCBI36 |
| NG_041813.1:g.4977G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000505703.2:c.-83G= | ENSP00000498560.1:n.-83G= | |
| ENST00000651386.1:c.-83G= | ENSP00000499133.1:n.-83G= | |
| ENST00000502351.1:n.341G= | ||
| ENST00000505703.1:n.383G= |