Linked Data
ClinVar Variation Id:
40391
dbSNP Id:
rs9648696
ExAC:
7:140449150 T / C
gnomAD v2:
7-140449150-T-C
gnomAD v3:
7-140749350-T-C
gnomAD v4:
7-140749350-T-C
ERepo:
CA135110/MONDO:0021060/004
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.140749350T>C , CM000669.2:g.140749350T>C | GRCh38 |
| NC_000007.13:g.140449150T>C , CM000669.1:g.140449150T>C | GRCh37 |
| NC_000007.12:g.140095619T>C | NCBI36 |
| NG_007873.3:g.180415A>G , LRG_299:g.180415A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000646891.2:c.1929A>G MANE Select | ENSP00000493543.1:p.Gly643= | |
| ENST00000288602.11:c.2049A>G | ENSP00000288602.7:p.Gly683= | |
| ENST00000479537.6:c.599A>G | ||
| ENST00000496384.7:c.1929A>G | ENSP00000419060.2:p.Gly643= | |
| ENST00000497784.2:c.*1379A>G | ENSP00000420119.2:n.*1379A>G | |
| ENST00000642228.1:c.*1007A>G | ENSP00000493678.1:n.*1007A>G | |
| ENST00000642875.1:n.1327A>G | ||
| ENST00000644120.1:n.2319A>G | ||
| ENST00000644650.1:c.1025A>G | ||
| ENST00000644905.1:n.2811A>G | ||
| ENST00000644969.2:c.2049A>G MANE Plus Clinical | ENSP00000496776.1:p.Gly683= | |
| ENST00000646730.1:c.*505A>G | ENSP00000494784.1:n.*505A>G | |
| ENST00000646891.1:c.1929A>G | ENSP00000493543.1:p.Gly643= | |
| ENST00000647434.1:c.806A>G | ENSP00000495132.1:p.Glu269Gly | |
| ENST00000288602.10:c.1929A>G | ENSP00000288602.6:p.Gly643= | |
| ENST00000479537.5:c.213A>G | ENSP00000418033.1:p.Gly71= | |
| ENST00000496384.6:c.752A>G | ||
| ENST00000497784.1:c.1964A>G | ENSP00000420119.1:n.1964A>G | |
| NM_004333.4:c.1929A>G , LRG_299t1:c.1929A>G | NP_004324.2:p.Gly643= | |
| XM_005250045.1:c.1929A>G | XP_005250102.1:p.Gly643= | |
| XM_005250046.1:c.1929A>G | XP_005250103.1:p.Gly643= | |
| XM_011516529.1:c.1929A>G | XP_011514831.1:p.Gly643= | |
| XM_011516530.1:c.1763A>G | XP_011514832.1:p.Glu588Gly | |
| XR_242190.1:n.1937A>G | ||
| XR_927520.1:n.1937A>G | ||
| XR_927521.1:n.1937A>G | ||
| XR_927522.1:n.1771A>G | ||
| XR_927523.1:n.1771A>G | ||
| NM_001354609.1:c.1929A>G | NP_001341538.1:p.Gly643= | |
| NM_004333.5:c.1929A>G | NP_004324.2:p.Gly643= | |
| NR_148928.1:n.3027A>G | ||
| XM_017012558.1:c.2049A>G | XP_016868047.1:p.Gly683= | |
| XM_017012559.1:c.2049A>G | XP_016868048.1:p.Gly683= | |
| XR_001744857.1:n.2057A>G | ||
| XR_001744858.1:n.1891A>G | ||
| NM_001354609.2:c.1929A>G | NP_001341538.1:p.Gly643= | |
| NM_001374244.1:c.2049A>G | NP_001361173.1:p.Gly683= | |
| NM_001374258.1:c.2049A>G MANE Plus Clinical | NP_001361187.1:p.Gly683= | |
| NM_004333.6:c.1929A>G MANE Select | NP_004324.2:p.Gly643= | |
| NM_001378467.1:c.1938A>G | NP_001365396.1:p.Gly646= | |
| NM_001378468.1:c.1929A>G | NP_001365397.1:p.Gly643= | |
| NM_001378469.1:c.1863A>G | NP_001365398.1:p.Gly621= | |
| NM_001378470.1:c.1827A>G | NP_001365399.1:p.Gly609= | |
| NM_001378471.1:c.1818A>G | NP_001365400.1:p.Gly606= | |
| NM_001378472.1:c.1773A>G | NP_001365401.1:p.Gly591= | |
| NM_001378473.1:c.1773A>G | NP_001365402.1:p.Gly591= | |
| NM_001378474.1:c.1929A>G | NP_001365403.1:p.Gly643= | |
| NM_001378475.1:c.1665A>G | NP_001365404.1:p.Gly555= |