Linked Data
ClinVar Variation Id:
366722
dbSNP Id:
rs369830702
gnomAD v3:
9-35072406-G-A
gnomAD v4:
9-35072406-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.35072406G>A , CM000671.2:g.35072406G>A | GRCh38 |
| NC_000009.11:g.35072403G>A , CM000671.1:g.35072403G>A | GRCh37 |
| NC_000009.10:g.35062403G>A | NCBI36 |
| NG_007312.1:g.12611C>T , LRG_499:g.12611C>T | |
| NG_007887.1:g.5337C>T , LRG_657:g.5337C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358901.11:c.-53C>T MANE Select | ENSP00000351777.6:n.-53C>T | |
| ENST00000448530.6:c.-248C>T | ENSP00000392088.2:n.-248C>T | |
| ENST00000480327.2:n.220C>T | ||
| ENST00000676836.2:n.211C>T | ||
| ENST00000677257.1:c.-53C>T | ENSP00000504354.1:n.-53C>T | |
| ENST00000678018.1:c.-53C>T | ENSP00000503811.1:n.-53C>T | |
| ENST00000678465.1:c.-53C>T | ENSP00000504259.1:n.-53C>T | |
| ENST00000678650.1:c.-180C>T | ENSP00000503426.1:n.-180C>T | |
| ENST00000679204.2:c.-53C>T | ENSP00000503131.2:n.-53C>T | |
| ENST00000679392.1:n.159+71C>T | ||
| ENST00000679599.1:n.218C>T | ||
| ENST00000679647.1:c.-53C>T | ENSP00000506216.1:n.-53C>T | |
| ENST00000679800.1:n.186C>T | ||
| ENST00000679862.1:c.-188C>T | ENSP00000504990.1:n.-188C>T | |
| ENST00000679901.1:n.156C>T | ||
| ENST00000679902.1:c.-53C>T | ENSP00000506338.1:n.-53C>T | |
| ENST00000680079.1:c.-53C>T | ENSP00000506523.1:n.-53C>T | |
| ENST00000680108.1:n.230C>T | ||
| ENST00000680575.1:n.230C>T | ||
| ENST00000680916.1:c.-53C>T | ENSP00000505769.1:n.-53C>T | |
| ENST00000681335.1:c.-53C>T | ENSP00000505230.1:n.-53C>T | |
| ENST00000681386.1:c.-76C>T | ENSP00000505509.1:n.-76C>T | |
| ENST00000681690.1:n.220C>T | ||
| ENST00000681845.1:c.183+1587C>T | ||
| ENST00000358901.10:c.-53C>T | ENSP00000351777.6:n.-53C>T | |
| ENST00000448530.5:c.-248C>T | ENSP00000392088.1:n.-248C>T | |
| ENST00000493886.5:n.144C>T | ||
| NM_007126.3:c.-53C>T , LRG_657t1:c.-53C>T | NP_009057.1:n.-53C>T | |
| NM_001354927.1:c.-248C>T | NP_001341856.1:n.-248C>T | |
| NM_007126.4:c.-53C>T | NP_009057.1:n.-53C>T | |
| NM_007126.5:c.-53C>T MANE Select | NP_009057.1:n.-53C>T | |
| NM_001354927.2:c.-248C>T | NP_001341856.1:n.-248C>T | |
| NM_001354928.2:c.-768C>T | NP_001341857.1:n.-768C>T |