Linked Data
dbSNP Id:
rs816488
gnomAD v2:
3-39553788-C-T
gnomAD v3:
3-39512297-C-T
gnomAD v4:
3-39512297-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.39512297C>T , CM000665.2:g.39512297C>T | GRCh38 |
| NC_000003.11:g.39553788C>T , CM000665.1:g.39553788C>T | GRCh37 |
| NC_000003.10:g.39528792C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311042.10:c.621-1086C>T | ENSP00000312293.6:n.621-1086C>T | |
| ENST00000383754.7:c.207-1086C>T | ENSP00000373261.3:n.207-1086C>T | |
| ENST00000415443.5:c.207-1086C>T | ENSP00000388148.1:n.207-1086C>T | |
| ENST00000420739.5:c.*35-1086C>T | ENSP00000400491.1:n.*35-1086C>T | |
| ENST00000424090.5:c.*35-1086C>T | ENSP00000389055.1:n.*35-1086C>T | |
| ENST00000428261.5:c.207-1086C>T | ENSP00000401312.1:n.207-1086C>T | |
| ENST00000442631.5:c.549-1086C>T | ENSP00000413771.1:n.549-1086C>T | |
| ENST00000447324.5:c.207-1086C>T | ENSP00000409730.1:n.207-1086C>T | |
| ENST00000452959.6:c.207-1086C>T | ENSP00000405549.1:n.207-1086C>T | |
| ENST00000479860.1:n.62-1086C>T | ||
| NM_001278322.1:c.621-1086C>T | NP_001265251.1:n.621-1086C>T | |
| NM_182935.3:c.207-1086C>T | NP_891980.1:n.207-1086C>T | |
| NR_003090.2:n.463-1086C>T | ||
| NR_103504.1:n.805-1086C>T | ||
| NR_103505.1:n.843-1086C>T | ||
| NR_103506.1:n.253-1086C>T | ||
| NM_001278322.2:c.621-1086C>T | NP_001265251.1:n.621-1086C>T | |
| NM_182935.4:c.207-1086C>T | NP_891980.1:n.207-1086C>T | |
| NR_003090.3:n.356-1086C>T | ||
| NR_103504.2:n.698-1086C>T | ||
| NR_103505.2:n.736-1086C>T | ||
| NR_103506.2:n.146-1086C>T |