Linked Data
dbSNP Id:
rs34397204
gnomAD v2:
3-185686806-G-A
gnomAD v3:
3-185969017-G-A
gnomAD v4:
3-185969017-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.185969017G>A , CM000665.2:g.185969017G>A | GRCh38 |
| NC_000003.11:g.185686806G>A , CM000665.1:g.185686806G>A | GRCh37 |
| NC_000003.10:g.187169500G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306399.3:n.270+309G>A | ||
| ENST00000416764.5:n.349+300G>A | ||
| ENST00000422108.5:n.288+368G>A | ||
| ENST00000423298.5:n.137-2598G>A | ||
| ENST00000436375.5:n.342+309G>A | ||
| ENST00000445507.1:n.279+368G>A | ||
| NR_033752.2:n.349+300G>A | ||
| NR_151491.1:n.137-2598G>A |