Linked Data
ClinVar Variation Id:
260124
dbSNP Id:
rs684562
ExAC:
9:35060302 T / C
gnomAD v2:
9-35060302-T-C
gnomAD v3:
9-35060305-T-C
gnomAD v4:
9-35060305-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.35060305T>C , CM000671.2:g.35060305T>C | GRCh38 |
| NC_000009.11:g.35060302T>C , CM000671.1:g.35060302T>C | GRCh37 |
| NC_000009.10:g.35050302T>C | NCBI36 |
| NG_007887.1:g.17438A>G , LRG_657:g.17438A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358901.11:c.1695+8A>G MANE Select | ENSP00000351777.6:n.1695+8A>G | |
| ENST00000417448.2:c.1560+8A>G | ENSP00000399456.2:n.1560+8A>G | |
| ENST00000448530.6:c.1560+8A>G | ENSP00000392088.2:n.1560+8A>G | |
| ENST00000480327.2:n.2108+8A>G | ||
| ENST00000676836.2:n.2438+8A>G | ||
| ENST00000677257.1:c.1689+8A>G | ENSP00000504354.1:n.1689+8A>G | |
| ENST00000678018.1:c.*1666+8A>G | ENSP00000503811.1:n.*1666+8A>G | |
| ENST00000678465.1:c.*707+8A>G | ENSP00000504259.1:n.*707+8A>G | |
| ENST00000678650.1:c.1560+8A>G | ENSP00000503426.1:n.1560+8A>G | |
| ENST00000679204.2:c.*336+8A>G | ENSP00000503131.2:n.*336+8A>G | |
| ENST00000679599.1:n.2248A>G | ||
| ENST00000679647.1:c.1695+8A>G | ENSP00000506216.1:n.1695+8A>G | |
| ENST00000679800.1:n.2094+8A>G | ||
| ENST00000679862.1:c.1560+8A>G | ENSP00000504990.1:n.1560+8A>G | |
| ENST00000679902.1:c.1695+8A>G | ENSP00000506338.1:n.1695+8A>G | |
| ENST00000680916.1:c.1695+8A>G | ENSP00000505769.1:n.1695+8A>G | |
| ENST00000681335.1:c.1695+8A>G | ENSP00000505230.1:n.1695+8A>G | |
| ENST00000681690.1:n.1967+8A>G | ||
| ENST00000358901.10:c.1695+8A>G | ENSP00000351777.6:n.1695+8A>G | |
| ENST00000480327.1:n.830+8A>G | ||
| ENST00000493886.5:n.1969+8A>G | ||
| NM_007126.3:c.1695+8A>G , LRG_657t1:c.1695+8A>G | NP_009057.1:n.1695+8A>G | |
| NM_001354927.1:c.1560+8A>G | NP_001341856.1:n.1560+8A>G | |
| NM_001354928.1:c.1560+8A>G | NP_001341857.1:n.1560+8A>G | |
| NM_007126.4:c.1695+8A>G | NP_009057.1:n.1695+8A>G | |
| NM_007126.5:c.1695+8A>G MANE Select | NP_009057.1:n.1695+8A>G | |
| NM_001354927.2:c.1560+8A>G | NP_001341856.1:n.1560+8A>G | |
| NM_001354928.2:c.1560+8A>G | NP_001341857.1:n.1560+8A>G |