Linked Data
dbSNP Id:
rs538469727
gnomAD v2:
6-109627011-G-A
gnomAD v3:
6-109305808-G-A
gnomAD v4:
6-109305808-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.109305808G>A , CM000668.2:g.109305808G>A | GRCh38 |
| NC_000006.11:g.109627011G>A , CM000668.1:g.109627011G>A | GRCh37 |
| NC_000006.10:g.109733704G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000429614.6:n.323-151G>A | ||
| ENST00000689724.1:n.55-151G>A | ||
| ENST00000691019.1:n.505-151G>A | ||
| ENST00000691264.1:n.61-151G>A | ||
| ENST00000693346.1:n.55-151G>A | ||
| ENST00000368966.10:n.4200-151G>A | ||
| ENST00000638844.1:n.456-151G>A | ||
| ENST00000368966.8:n.456-151G>A | ||
| ENST00000422819.5:n.462-151G>A | ||
| ENST00000429614.5:n.323-151G>A | ||
| ENST00000615766.4:n.825-151G>A | ||
| NR_028595.1:n.323-151G>A | ||
| NR_152435.1:n.4168-151G>A |