Linked Data
dbSNP Id:
rs10049246
gnomAD v2:
3-185686741-A-G
gnomAD v3:
3-185968952-A-G
gnomAD v4:
3-185968952-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.185968952A>G , CM000665.2:g.185968952A>G | GRCh38 |
| NC_000003.11:g.185686741A>G , CM000665.1:g.185686741A>G | GRCh37 |
| NC_000003.10:g.187169435A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000306399.3:n.270+244A>G | ||
| ENST00000416764.5:n.349+235A>G | ||
| ENST00000422108.5:n.288+303A>G | ||
| ENST00000423298.5:n.137-2663A>G | ||
| ENST00000436375.5:n.342+244A>G | ||
| ENST00000445507.1:n.279+303A>G | ||
| NR_033752.2:n.349+235A>G | ||
| NR_151491.1:n.137-2663A>G |