Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.30908375C= , CM000668.2:g.30908375C= | GRCh38 |
| NC_000006.11:g.30876152C= , CM000668.1:g.30876152C= | GRCh37 |
| NC_000006.10:g.30984131C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259895.9:c.-32C= (GTF2H4) MANE Select | ENSP00000259895.4:n.-32C= | |
| ENST00000259895.8:c.-32C= (GTF2H4) | ENSP00000259895.4:n.-32C= | |
| ENST00000376316.5:c.-7C= (GTF2H4) | ENSP00000365493.2:n.-7C= | |
| ENST00000453897.4:n.153C= (GTF2H4) | ||
| ENST00000477288.5:n.134C= (VARS2) | ||
| NM_001517.4:c.-32C= (GTF2H4) | NP_001508.1:n.-32C= | |
| NM_001517.5:c.-32C= (GTF2H4) MANE Select | NP_001508.1:n.-32C= |