Linked Data
dbSNP Id:
rs754213234
gnomAD v2:
3-185686897-T-C
gnomAD v3:
3-185969108-T-C
gnomAD v4:
3-185969108-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.185969108T>C , CM000665.2:g.185969108T>C | GRCh38 |
| NC_000003.11:g.185686897T>C , CM000665.1:g.185686897T>C | GRCh37 |
| NC_000003.10:g.187169591T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306399.3:n.270+400T>C | ||
| ENST00000416764.5:n.349+391T>C | ||
| ENST00000422108.5:n.288+459T>C | ||
| ENST00000423298.5:n.137-2507T>C | ||
| ENST00000436375.5:n.342+400T>C | ||
| ENST00000445507.1:n.279+459T>C | ||
| NR_033752.2:n.349+391T>C | ||
| NR_151491.1:n.137-2507T>C |