Linked Data
dbSNP Id:
rs747754096
ExAC:
3:33110398 C / T
gnomAD v2:
3-33110398-C-T
gnomAD v3:
3-33068906-C-T
gnomAD v4:
3-33068906-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.33068906C>T , CM000665.2:g.33068906C>T | GRCh38 |
| NC_000003.11:g.33110398C>T , CM000665.1:g.33110398C>T | GRCh37 |
| NC_000003.10:g.33085402C>T | NCBI36 |
| NG_009005.1:g.33297G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307363.10:c.310G>A MANE Select | ENSP00000306920.4:p.Val104Met | |
| ENST00000307363.9:c.310G>A | ENSP00000306920.4:p.Val104Met | |
| ENST00000307377.12:c.246-3349G>A | ENSP00000305920.8:n.246-3349G>A | |
| ENST00000399402.7:c.220G>A | ENSP00000382333.2:p.Val74Met | |
| ENST00000415454.1:c.76-10637G>A | ENSP00000411813.1:n.76-10637G>A | |
| ENST00000438227.1:c.76-3349G>A | ENSP00000401250.1:n.76-3349G>A | |
| ENST00000440656.1:c.-84G>A | ENSP00000411769.1:n.-84G>A | |
| ENST00000446732.5:c.156-3349G>A | ENSP00000407365.1:n.156-3349G>A | |
| ENST00000450835.1:c.220G>A | ENSP00000403264.1:p.Val74Met | |
| ENST00000464355.1:n.268G>A | ||
| ENST00000482097.5:n.109-15357G>A | ||
| ENST00000485698.5:n.137-15357G>A | ||
| ENST00000498537.5:n.133-15357G>A | ||
| NM_000404.2:c.310G>A | NP_000395.2:p.Val104Met | |
| NM_000404.3:c.310G>A | NP_000395.2:p.Val104Met | |
| NM_001079811.1:c.220G>A | NP_001073279.1:p.Val74Met | |
| NM_001079811.2:c.220G>A | NP_001073279.1:p.Val74Met | |
| NM_001135602.1:c.246-3349G>A | NP_001129074.1:n.246-3349G>A | |
| NM_001135602.2:c.246-3349G>A | NP_001129074.1:n.246-3349G>A | |
| NM_001317040.1:c.454G>A | NP_001303969.1:p.Val152Met | |
| NM_000404.4:c.310G>A MANE Select | NP_000395.3:p.Val104Met | |
| NM_001079811.3:c.220G>A | NP_001073279.2:p.Val74Met | |
| NM_001135602.3:c.246-3349G>A | NP_001129074.2:n.246-3349G>A | |
| NM_001317040.2:c.454G>A | NP_001303969.2:p.Val152Met | |
| NM_001393580.1:c.310G>A | NP_001380509.1:p.Val104Met |