Linked Data
ClinVar Variation Id:
678066
ClinVar RCV Id:
RCV000837640
dbSNP Id:
rs11129543
gnomAD v2:
3-33110190-G-T
gnomAD v3:
3-33068698-G-T
gnomAD v4:
3-33068698-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.33068698G>T , CM000665.2:g.33068698G>T | GRCh38 |
| NC_000003.11:g.33110190G>T , CM000665.1:g.33110190G>T | GRCh37 |
| NC_000003.10:g.33085194G>T | NCBI36 |
| NG_009005.1:g.33505C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307363.10:c.396+122C>A MANE Select | ENSP00000306920.4:n.396+122C>A | |
| ENST00000307363.9:c.396+122C>A | ENSP00000306920.4:n.396+122C>A | |
| ENST00000307377.12:c.246-3141C>A | ENSP00000305920.8:n.246-3141C>A | |
| ENST00000399402.7:c.306+122C>A | ENSP00000382333.2:n.306+122C>A | |
| ENST00000415454.1:c.76-10429C>A | ENSP00000411813.1:n.76-10429C>A | |
| ENST00000438227.1:c.76-3141C>A | ENSP00000401250.1:n.76-3141C>A | |
| ENST00000440656.1:c.3+122C>A | ENSP00000411769.1:n.3+122C>A | |
| ENST00000446732.5:c.156-3141C>A | ENSP00000407365.1:n.156-3141C>A | |
| ENST00000464355.1:n.354+122C>A | ||
| ENST00000482097.5:n.109-15149C>A | ||
| ENST00000485698.5:n.137-15149C>A | ||
| ENST00000498537.5:n.133-15149C>A | ||
| NM_000404.2:c.396+122C>A | NP_000395.2:n.396+122C>A | |
| NM_000404.3:c.396+122C>A | NP_000395.2:n.396+122C>A | |
| NM_001079811.1:c.306+122C>A | NP_001073279.1:n.306+122C>A | |
| NM_001079811.2:c.306+122C>A | NP_001073279.1:n.306+122C>A | |
| NM_001135602.1:c.246-3141C>A | NP_001129074.1:n.246-3141C>A | |
| NM_001135602.2:c.246-3141C>A | NP_001129074.1:n.246-3141C>A | |
| NM_001317040.1:c.540+122C>A | NP_001303969.1:n.540+122C>A | |
| NM_000404.4:c.396+122C>A MANE Select | NP_000395.3:n.396+122C>A | |
| NM_001079811.3:c.306+122C>A | NP_001073279.2:n.306+122C>A | |
| NM_001135602.3:c.246-3141C>A | NP_001129074.2:n.246-3141C>A | |
| NM_001317040.2:c.540+122C>A | NP_001303969.2:n.540+122C>A | |
| NM_001393580.1:c.396+122C>A | NP_001380509.1:n.396+122C>A |