Linked Data
ClinVar Variation Id:
40363
ClinVar RCV Id:
RCV000033301
RCV000037913
RCV000278773
RCV000318318
RCV001719717
RCV001813220
RCV002381280
dbSNP Id:
rs56216404
ExAC:
7:140481425 T / C
gnomAD v2:
7-140481425-T-C
gnomAD v3:
7-140781625-T-C
gnomAD v4:
7-140781625-T-C
ERepo:
CA135073/MONDO:0021060/004
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.140781625T>C , CM000669.2:g.140781625T>C | GRCh38 |
| NC_000007.13:g.140481425T>C , CM000669.1:g.140481425T>C | GRCh37 |
| NC_000007.12:g.140127894T>C | NCBI36 |
| NG_007873.3:g.148140A>G , LRG_299:g.148140A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000646891.2:c.1383A>G MANE Select | ENSP00000493543.1:p.Gln461= | |
| ENST00000288602.11:c.1503A>G | ENSP00000288602.7:p.Gln501= | |
| ENST00000479537.6:c.53A>G | ||
| ENST00000496384.7:c.1383A>G | ENSP00000419060.2:p.Gln461= | |
| ENST00000497784.2:c.*833A>G | ENSP00000420119.2:n.*833A>G | |
| ENST00000642228.1:c.*461A>G | ENSP00000493678.1:n.*461A>G | |
| ENST00000642875.1:n.825A>G | ||
| ENST00000644120.1:n.1773A>G | ||
| ENST00000644650.1:c.479A>G | ||
| ENST00000644905.1:n.1472A>G | ||
| ENST00000644969.2:c.1503A>G MANE Plus Clinical | ENSP00000496776.1:p.Gln501= | |
| ENST00000646334.1:n.513A>G | ||
| ENST00000646730.1:c.1383A>G | ENSP00000494784.1:p.Gln461= | |
| ENST00000646891.1:c.1383A>G | ENSP00000493543.1:p.Gln461= | |
| ENST00000647434.1:c.426A>G | ENSP00000495132.1:p.Gln142= | |
| ENST00000288602.10:c.1383A>G | ENSP00000288602.6:p.Gln461= | |
| ENST00000496384.6:c.206A>G | ||
| ENST00000497784.1:c.1418A>G | ENSP00000420119.1:n.1418A>G | |
| NM_004333.4:c.1383A>G , LRG_299t1:c.1383A>G | NP_004324.2:p.Gln461= | |
| XM_005250045.1:c.1383A>G | XP_005250102.1:p.Gln461= | |
| XM_005250046.1:c.1383A>G | XP_005250103.1:p.Gln461= | |
| XM_011516529.1:c.1383A>G | XP_011514831.1:p.Gln461= | |
| XM_011516530.1:c.1383A>G | XP_011514832.1:p.Gln461= | |
| XR_242190.1:n.1391A>G | ||
| XR_927520.1:n.1391A>G | ||
| XR_927521.1:n.1391A>G | ||
| XR_927522.1:n.1391A>G | ||
| XR_927523.1:n.1391A>G | ||
| NM_001354609.1:c.1383A>G | NP_001341538.1:p.Gln461= | |
| NM_004333.5:c.1383A>G | NP_004324.2:p.Gln461= | |
| NR_148928.1:n.1688A>G | ||
| XM_017012558.1:c.1503A>G | XP_016868047.1:p.Gln501= | |
| XM_017012559.1:c.1503A>G | XP_016868048.1:p.Gln501= | |
| XR_001744857.1:n.1511A>G | ||
| XR_001744858.1:n.1511A>G | ||
| NM_001354609.2:c.1383A>G | NP_001341538.1:p.Gln461= | |
| NM_001374244.1:c.1503A>G | NP_001361173.1:p.Gln501= | |
| NM_001374258.1:c.1503A>G MANE Plus Clinical | NP_001361187.1:p.Gln501= | |
| NM_004333.6:c.1383A>G MANE Select | NP_004324.2:p.Gln461= | |
| NM_001378467.1:c.1392A>G | NP_001365396.1:p.Gln464= | |
| NM_001378468.1:c.1383A>G | NP_001365397.1:p.Gln461= | |
| NM_001378469.1:c.1317A>G | NP_001365398.1:p.Gln439= | |
| NM_001378470.1:c.1281A>G | NP_001365399.1:p.Gln427= | |
| NM_001378471.1:c.1272A>G | NP_001365400.1:p.Gln424= | |
| NM_001378472.1:c.1227A>G | NP_001365401.1:p.Gln409= | |
| NM_001378473.1:c.1227A>G | NP_001365402.1:p.Gln409= | |
| NM_001378474.1:c.1383A>G | NP_001365403.1:p.Gln461= | |
| NM_001378475.1:c.1119A>G | NP_001365404.1:p.Gln373= |