Linked Data
dbSNP Id:
rs1264308
gnomAD v2:
6-30879987-C-T
gnomAD v3:
6-30912210-C-T
gnomAD v4:
6-30912210-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.30912210C>T , CM000668.2:g.30912210C>T | GRCh38 |
| NC_000006.11:g.30879987C>T , CM000668.1:g.30879987C>T | GRCh37 |
| NC_000006.10:g.30987966C>T | NCBI36 |
| NG_034224.1:g.3003C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000259895.9:c.958+64C>T (GTF2H4) MANE Select | ENSP00000259895.4:n.958+64C>T | |
| ENST00000259895.8:c.958+64C>T (GTF2H4) | ENSP00000259895.4:n.958+64C>T | |
| ENST00000376316.5:c.958+64C>T (GTF2H4) | ENSP00000365493.2:n.958+64C>T | |
| ENST00000477288.5:n.1187C>T (VARS2) | ||
| ENST00000483318.5:n.260C>T (GTF2H4) | ||
| ENST00000487746.1:n.1060+64C>T (GTF2H4) | ||
| NM_001517.4:c.958+64C>T (GTF2H4) | NP_001508.1:n.958+64C>T | |
| NM_001517.5:c.958+64C>T (GTF2H4) MANE Select | NP_001508.1:n.958+64C>T |