Linked Data
ClinVar Variation Id:
40393
dbSNP Id:
rs3789806
ExAC:
7:140449071 C / G
gnomAD v2:
7-140449071-C-G
gnomAD v3:
7-140749271-C-G
gnomAD v4:
7-140749271-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.140749271C>G , CM000669.2:g.140749271C>G | GRCh38 |
| NC_000007.13:g.140449071C>G , CM000669.1:g.140449071C>G | GRCh37 |
| NC_000007.12:g.140095540C>G | NCBI36 |
| NG_007873.3:g.180494G>C , LRG_299:g.180494G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000646891.2:c.1992+16G>C MANE Select | ENSP00000493543.1:n.1992+16G>C | |
| ENST00000288602.11:c.2112+16G>C | ENSP00000288602.7:n.2112+16G>C | |
| ENST00000479537.6:c.662+16G>C | ||
| ENST00000496384.7:c.1992+16G>C | ENSP00000419060.2:n.1992+16G>C | |
| ENST00000497784.2:c.*1442+16G>C | ENSP00000420119.2:n.*1442+16G>C | |
| ENST00000642228.1:c.*1070+16G>C | ENSP00000493678.1:n.*1070+16G>C | |
| ENST00000642875.1:n.1390+16G>C | ||
| ENST00000644120.1:n.2382+16G>C | ||
| ENST00000644650.1:c.1088+16G>C | ||
| ENST00000644905.1:n.2874+16G>C | ||
| ENST00000644969.2:c.2112+16G>C MANE Plus Clinical | ENSP00000496776.1:n.2112+16G>C | |
| ENST00000646730.1:c.*568+16G>C | ENSP00000494784.1:n.*568+16G>C | |
| ENST00000646891.1:c.1992+16G>C | ENSP00000493543.1:n.1992+16G>C | |
| ENST00000647434.1:c.869+16G>C | ENSP00000495132.1:n.869+16G>C | |
| ENST00000288602.10:c.1992+16G>C | ENSP00000288602.6:n.1992+16G>C | |
| ENST00000479537.5:c.276+16G>C | ENSP00000418033.1:n.276+16G>C | |
| ENST00000496384.6:c.815+16G>C | ||
| ENST00000497784.1:c.2027+16G>C | ENSP00000420119.1:n.2027+16G>C | |
| NM_004333.4:c.1992+16G>C , LRG_299t1:c.1992+16G>C | NP_004324.2:n.1992+16G>C | |
| XM_005250045.1:c.1992+16G>C | XP_005250102.1:n.1992+16G>C | |
| XM_005250046.1:c.1992+16G>C | XP_005250103.1:n.1992+16G>C | |
| XM_011516529.1:c.1992+16G>C | XP_011514831.1:n.1992+16G>C | |
| XM_011516530.1:c.*44+16G>C | XP_011514832.1:n.*44+16G>C | |
| XR_242190.1:n.2000+16G>C | ||
| XR_927520.1:n.2000+16G>C | ||
| XR_927521.1:n.2000+16G>C | ||
| XR_927522.1:n.1834+16G>C | ||
| XR_927523.1:n.1834+16G>C | ||
| NM_001354609.1:c.1992+16G>C | NP_001341538.1:n.1992+16G>C | |
| NM_004333.5:c.1992+16G>C | NP_004324.2:n.1992+16G>C | |
| NR_148928.1:n.3090+16G>C | ||
| XM_017012558.1:c.2112+16G>C | XP_016868047.1:n.2112+16G>C | |
| XM_017012559.1:c.2112+16G>C | XP_016868048.1:n.2112+16G>C | |
| XR_001744857.1:n.2120+16G>C | ||
| XR_001744858.1:n.1954+16G>C | ||
| NM_001354609.2:c.1992+16G>C | NP_001341538.1:n.1992+16G>C | |
| NM_001374244.1:c.2112+16G>C | NP_001361173.1:n.2112+16G>C | |
| NM_001374258.1:c.2112+16G>C MANE Plus Clinical | NP_001361187.1:n.2112+16G>C | |
| NM_004333.6:c.1992+16G>C MANE Select | NP_004324.2:n.1992+16G>C | |
| NM_001378467.1:c.2001+16G>C | NP_001365396.1:n.2001+16G>C | |
| NM_001378468.1:c.1992+16G>C | NP_001365397.1:n.1992+16G>C | |
| NM_001378469.1:c.1926+16G>C | NP_001365398.1:n.1926+16G>C | |
| NM_001378470.1:c.1890+16G>C | NP_001365399.1:n.1890+16G>C | |
| NM_001378471.1:c.1881+16G>C | NP_001365400.1:n.1881+16G>C | |
| NM_001378472.1:c.1836+16G>C | NP_001365401.1:n.1836+16G>C | |
| NM_001378473.1:c.1836+16G>C | NP_001365402.1:n.1836+16G>C | |
| NM_001378474.1:c.1992+16G>C | NP_001365403.1:n.1992+16G>C | |
| NM_001378475.1:c.1728+16G>C | NP_001365404.1:n.1728+16G>C |