Linked Data
dbSNP Id:
rs2074508
gnomAD v2:
6-30876438-G-A
gnomAD v3:
6-30908661-G-A
gnomAD v4:
6-30908661-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.30908661G>A , CM000668.2:g.30908661G>A | GRCh38 |
| NC_000006.11:g.30876438G>A , CM000668.1:g.30876438G>A | GRCh37 |
| NC_000006.10:g.30984417G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000259895.9:c.-4+258G>A (GTF2H4) MANE Select | ENSP00000259895.4:n.-4+258G>A | |
| ENST00000259895.8:c.-4+258G>A (GTF2H4) | ENSP00000259895.4:n.-4+258G>A | |
| ENST00000376316.5:c.-4+283G>A (GTF2H4) | ENSP00000365493.2:n.-4+283G>A | |
| ENST00000453897.4:n.181+258G>A (GTF2H4) | ||
| ENST00000477288.5:n.162+258G>A (VARS2) | ||
| NM_001517.4:c.-4+258G>A (GTF2H4) | NP_001508.1:n.-4+258G>A | |
| NM_001517.5:c.-4+258G>A (GTF2H4) MANE Select | NP_001508.1:n.-4+258G>A |