Linked Data
ClinVar Variation Id:
477685
dbSNP Id:
rs1428696172
gnomAD v2:
7-140439724-C-A
gnomAD v3:
7-140739924-C-A
gnomAD v4:
7-140739924-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.140739924C>A , CM000669.2:g.140739924C>A | GRCh38 |
| NC_000007.13:g.140439724C>A , CM000669.1:g.140439724C>A | GRCh37 |
| NC_000007.12:g.140086193C>A | NCBI36 |
| NG_007873.3:g.189841G>T , LRG_299:g.189841G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000646891.2:c.2015G>T MANE Select | ENSP00000493543.1:p.Gly672Val | |
| ENST00000288602.11:c.2135G>T | ENSP00000288602.7:p.Gly712Val | |
| ENST00000479537.6:c.767G>T | ||
| ENST00000496384.7:c.2015G>T | ENSP00000419060.2:p.Gly672Val | |
| ENST00000497784.2:c.*1465G>T | ENSP00000420119.2:n.*1465G>T | |
| ENST00000642228.1:c.*1093G>T | ENSP00000493678.1:n.*1093G>T | |
| ENST00000642875.1:n.1413G>T | ||
| ENST00000644120.1:n.2405G>T | ||
| ENST00000644650.1:c.1314G>T | ||
| ENST00000644905.1:n.2897G>T | ||
| ENST00000644969.2:c.2135G>T MANE Plus Clinical | ENSP00000496776.1:p.Gly712Val | |
| ENST00000645443.1:n.1794G>T | ||
| ENST00000646730.1:c.*673G>T | ENSP00000494784.1:n.*673G>T | |
| ENST00000646891.1:c.2015G>T | ENSP00000493543.1:p.Gly672Val | |
| ENST00000647434.1:c.892G>T | ENSP00000495132.1:n.892G>T | |
| ENST00000288602.10:c.2015G>T | ENSP00000288602.6:p.Gly672Val | |
| ENST00000479537.5:c.381G>T | ENSP00000418033.1:n.381G>T | |
| ENST00000496384.6:c.838G>T | ||
| ENST00000497784.1:c.2050G>T | ENSP00000420119.1:n.2050G>T | |
| NM_004333.4:c.2015G>T , LRG_299t1:c.2015G>T | NP_004324.2:p.Gly672Val | |
| XM_005250045.1:c.2015G>T | XP_005250102.1:p.Gly672Val | |
| XM_005250046.1:c.2015G>T | XP_005250103.1:p.Gly672Val | |
| XM_011516529.1:c.2015G>T | XP_011514831.1:p.Gly672Val | |
| XR_242190.1:n.2105G>T | ||
| XR_927520.1:n.2144G>T | ||
| XR_927521.1:n.2226G>T | ||
| XR_927522.1:n.1857G>T | ||
| XR_927523.1:n.1939G>T | ||
| NM_001354609.1:c.2015G>T | NP_001341538.1:p.Gly672Val | |
| NM_004333.5:c.2015G>T | NP_004324.2:p.Gly672Val | |
| NR_148928.1:n.3113G>T | ||
| XM_017012558.1:c.2135G>T | XP_016868047.1:p.Gly712Val | |
| XM_017012559.1:c.2135G>T | XP_016868048.1:p.Gly712Val | |
| XR_001744857.1:n.2225G>T | ||
| XR_001744858.1:n.1977G>T | ||
| NM_001354609.2:c.2015G>T | NP_001341538.1:p.Gly672Val | |
| NM_001374244.1:c.2135G>T | NP_001361173.1:p.Gly712Val | |
| NM_001374258.1:c.2135G>T MANE Plus Clinical | NP_001361187.1:p.Gly712Val | |
| NM_004333.6:c.2015G>T MANE Select | NP_004324.2:p.Gly672Val | |
| NM_001378467.1:c.2024G>T | NP_001365396.1:p.Gly675Val | |
| NM_001378468.1:c.2015G>T | NP_001365397.1:p.Gly672Val | |
| NM_001378469.1:c.1949G>T | NP_001365398.1:p.Gly650Val | |
| NM_001378470.1:c.1913G>T | NP_001365399.1:p.Gly638Val | |
| NM_001378471.1:c.1904G>T | NP_001365400.1:p.Gly635Val | |
| NM_001378472.1:c.1859G>T | NP_001365401.1:p.Gly620Val | |
| NM_001378473.1:c.1859G>T | NP_001365402.1:p.Gly620Val | |
| NM_001378474.1:c.2015G>T | NP_001365403.1:p.Gly672Val | |
| NM_001378475.1:c.1751G>T | NP_001365404.1:p.Gly584Val |