Linked Data
ClinVar Variation Id:
532766
ClinVar RCV Id:
RCV000639661
dbSNP Id:
rs199513619
ExAC:
9:35057533 G / A
gnomAD v2:
9-35057533-G-A
gnomAD v3:
9-35057536-G-A
gnomAD v4:
9-35057536-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.35057536G>A , CM000671.2:g.35057536G>A | GRCh38 |
| NC_000009.11:g.35057533G>A , CM000671.1:g.35057533G>A | GRCh37 |
| NC_000009.10:g.35047533G>A | NCBI36 |
| NG_007887.1:g.20207C>T , LRG_657:g.20207C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358901.11:c.2161-6C>T MANE Select | ENSP00000351777.6:n.2161-6C>T | |
| ENST00000417448.2:c.2026-6C>T | ENSP00000399456.2:n.2026-6C>T | |
| ENST00000448530.6:c.2026-6C>T | ENSP00000392088.2:n.2026-6C>T | |
| ENST00000479300.2:n.689-6C>T | ||
| ENST00000676836.2:n.2904-6C>T | ||
| ENST00000677257.1:c.2155-6C>T | ENSP00000504354.1:n.2155-6C>T | |
| ENST00000678018.1:c.*2132-6C>T | ENSP00000503811.1:n.*2132-6C>T | |
| ENST00000678465.1:c.*1173-6C>T | ENSP00000504259.1:n.*1173-6C>T | |
| ENST00000678650.1:c.2026-6C>T | ENSP00000503426.1:n.2026-6C>T | |
| ENST00000679204.2:c.*802-6C>T | ENSP00000503131.2:n.*802-6C>T | |
| ENST00000679599.1:n.4744C>T | ||
| ENST00000679647.1:c.2084-441C>T | ENSP00000506216.1:n.2084-441C>T | |
| ENST00000679800.1:n.2560-6C>T | ||
| ENST00000679862.1:c.2026-9C>T | ENSP00000504990.1:n.2026-9C>T | |
| ENST00000679902.1:c.2161-6C>T | ENSP00000506338.1:n.2161-6C>T | |
| ENST00000680916.1:c.*126-6C>T | ENSP00000505769.1:n.*126-6C>T | |
| ENST00000681335.1:c.2005-6C>T | ENSP00000505230.1:n.2005-6C>T | |
| ENST00000681690.1:n.3960C>T | ||
| ENST00000358901.10:c.2161-6C>T | ENSP00000351777.6:n.2161-6C>T | |
| ENST00000466100.1:n.298C>T | ||
| ENST00000493886.5:n.2435-6C>T | ||
| NM_007126.3:c.2161-6C>T , LRG_657t1:c.2161-6C>T | NP_009057.1:n.2161-6C>T | |
| NM_001354927.1:c.2026-6C>T | NP_001341856.1:n.2026-6C>T | |
| NM_001354928.1:c.2026-6C>T | NP_001341857.1:n.2026-6C>T | |
| NM_007126.4:c.2161-6C>T | NP_009057.1:n.2161-6C>T | |
| NM_007126.5:c.2161-6C>T MANE Select | NP_009057.1:n.2161-6C>T | |
| NM_001354927.2:c.2026-6C>T | NP_001341856.1:n.2026-6C>T | |
| NM_001354928.2:c.2026-6C>T | NP_001341857.1:n.2026-6C>T |