Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.113475353G= , CM000673.2:g.113475353G= | GRCh38 |
| NC_000011.9:g.113346075G= , CM000673.1:g.113346075G= | GRCh37 |
| NC_000011.8:g.112851285G= | NCBI36 |
| NG_008841.1:g.4927C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000362072.8:c.-309C= MANE Select | ENSP00000354859.3:n.-309C= | |
| ENST00000362072.7:c.-309C= | ENSP00000354859.3:n.-309C= | |
| ENST00000540600.5:n.34+305C= | ||
| NM_000795.4:c.-309C= MANE Select | NP_000786.1:n.-309C= | |
| NM_016574.4:c.-309C= | NP_057658.2:n.-309C= |