Linked Data
dbSNP Id:
rs1298186152
gnomAD v2:
9-35068066-G-C
gnomAD v3:
9-35068069-G-C
gnomAD v4:
9-35068069-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.35068069G>C , CM000671.2:g.35068069G>C | GRCh38 |
| NC_000009.11:g.35068066G>C , CM000671.1:g.35068066G>C | GRCh37 |
| NC_000009.10:g.35058066G>C | NCBI36 |
| NG_007887.1:g.9674C>G , LRG_657:g.9674C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358901.11:c.130-6C>G MANE Select | ENSP00000351777.6:n.130-6C>G | |
| ENST00000417448.2:c.-6-6C>G | ENSP00000399456.2:n.-6-6C>G | |
| ENST00000448530.6:c.-6-6C>G | ENSP00000392088.2:n.-6-6C>G | |
| ENST00000480327.2:n.402-6C>G | ||
| ENST00000676836.2:n.393-6C>G | ||
| ENST00000677257.1:c.130-12C>G | ENSP00000504354.1:n.130-12C>G | |
| ENST00000678018.1:c.*95C>G | ENSP00000503811.1:n.*95C>G | |
| ENST00000678465.1:c.130-6C>G | ENSP00000504259.1:n.130-6C>G | |
| ENST00000678650.1:c.-6-6C>G | ENSP00000503426.1:n.-6-6C>G | |
| ENST00000679204.2:c.130-6C>G | ENSP00000503131.2:n.130-6C>G | |
| ENST00000679449.1:c.143C>G | ||
| ENST00000679599.1:n.400-6C>G | ||
| ENST00000679647.1:c.130-6C>G | ENSP00000506216.1:n.130-6C>G | |
| ENST00000679800.1:n.368-6C>G | ||
| ENST00000679862.1:c.-6-6C>G | ENSP00000504990.1:n.-6-6C>G | |
| ENST00000679902.1:c.130-6C>G | ENSP00000506338.1:n.130-6C>G | |
| ENST00000680079.1:c.*51-6C>G | ENSP00000506523.1:n.*51-6C>G | |
| ENST00000680900.1:c.128C>G | ||
| ENST00000680916.1:c.130-6C>G | ENSP00000505769.1:n.130-6C>G | |
| ENST00000681335.1:c.130-6C>G | ENSP00000505230.1:n.130-6C>G | |
| ENST00000681386.1:c.-6-6C>G | ENSP00000505509.1:n.-6-6C>G | |
| ENST00000681690.1:n.402-6C>G | ||
| ENST00000681845.1:c.296-6C>G | ||
| ENST00000358901.10:c.130-6C>G | ENSP00000351777.6:n.130-6C>G | |
| ENST00000417448.1:c.-6-6C>G | ENSP00000399456.1:n.-6-6C>G | |
| ENST00000448530.5:c.-6-6C>G | ENSP00000392088.1:n.-6-6C>G | |
| ENST00000493886.5:n.326-6C>G | ||
| NM_007126.3:c.130-6C>G , LRG_657t1:c.130-6C>G | NP_009057.1:n.130-6C>G | |
| NM_001354927.1:c.-6-6C>G | NP_001341856.1:n.-6-6C>G | |
| NM_001354928.1:c.-6-6C>G | NP_001341857.1:n.-6-6C>G | |
| NM_007126.4:c.130-6C>G | NP_009057.1:n.130-6C>G | |
| NM_007126.5:c.130-6C>G MANE Select | NP_009057.1:n.130-6C>G | |
| NM_001354927.2:c.-6-6C>G | NP_001341856.1:n.-6-6C>G | |
| NM_001354928.2:c.-6-6C>G | NP_001341857.1:n.-6-6C>G |