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