Linked Data
ClinVar Variation Id:
2156732
dbSNP Id:
rs1382327548
gnomAD v2:
7-140500199-C-T
gnomAD v4:
7-140800399-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.140800399C>T , CM000669.2:g.140800399C>T | GRCh38 |
| NC_000007.13:g.140500199C>T , CM000669.1:g.140500199C>T | GRCh37 |
| NC_000007.12:g.140146668C>T | NCBI36 |
| NG_007873.3:g.129366G>A , LRG_299:g.129366G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000646891.2:c.943G>A MANE Select | ENSP00000493543.1:p.Gly315Arg | |
| ENST00000288602.11:c.943G>A | ENSP00000288602.7:p.Gly315Arg | |
| ENST00000496384.7:c.943G>A | ENSP00000419060.2:p.Gly315Arg | |
| ENST00000497784.2:c.*393G>A | ENSP00000420119.2:n.*393G>A | |
| ENST00000642228.1:c.*21G>A | ENSP00000493678.1:n.*21G>A | |
| ENST00000642272.1:n.975G>A | ||
| ENST00000642875.1:n.437G>A | ||
| ENST00000644120.1:n.1385G>A | ||
| ENST00000644650.1:c.39G>A | ||
| ENST00000644905.1:n.1032G>A | ||
| ENST00000644969.2:c.943G>A MANE Plus Clinical | ENSP00000496776.1:p.Gly315Arg | |
| ENST00000646730.1:c.943G>A | ENSP00000494784.1:p.Gly315Arg | |
| ENST00000646891.1:c.943G>A | ENSP00000493543.1:p.Gly315Arg | |
| ENST00000288602.10:c.943G>A | ENSP00000288602.6:p.Gly315Arg | |
| ENST00000497784.1:c.978G>A | ENSP00000420119.1:n.978G>A | |
| NM_004333.4:c.943G>A , LRG_299t1:c.943G>A | NP_004324.2:p.Gly315Arg | |
| XM_005250045.1:c.943G>A | XP_005250102.1:p.Gly315Arg | |
| XM_005250046.1:c.943G>A | XP_005250103.1:p.Gly315Arg | |
| XM_011516529.1:c.943G>A | XP_011514831.1:p.Gly315Arg | |
| XM_011516530.1:c.943G>A | XP_011514832.1:p.Gly315Arg | |
| XR_242190.1:n.951G>A | ||
| XR_927520.1:n.951G>A | ||
| XR_927521.1:n.951G>A | ||
| XR_927522.1:n.951G>A | ||
| XR_927523.1:n.951G>A | ||
| NM_001354609.1:c.943G>A | NP_001341538.1:p.Gly315Arg | |
| NM_004333.5:c.943G>A | NP_004324.2:p.Gly315Arg | |
| NR_148928.1:n.1248G>A | ||
| XM_017012558.1:c.943G>A | XP_016868047.1:p.Gly315Arg | |
| XM_017012559.1:c.943G>A | XP_016868048.1:p.Gly315Arg | |
| XR_001744857.1:n.951G>A | ||
| XR_001744858.1:n.951G>A | ||
| NM_001354609.2:c.943G>A | NP_001341538.1:p.Gly315Arg | |
| NM_001374244.1:c.943G>A | NP_001361173.1:p.Gly315Arg | |
| NM_001374258.1:c.943G>A MANE Plus Clinical | NP_001361187.1:p.Gly315Arg | |
| NM_004333.6:c.943G>A MANE Select | NP_004324.2:p.Gly315Arg | |
| NM_001378467.1:c.952G>A | NP_001365396.1:p.Gly318Arg | |
| NM_001378468.1:c.943G>A | NP_001365397.1:p.Gly315Arg | |
| NM_001378469.1:c.943G>A | NP_001365398.1:p.Gly315Arg | |
| NM_001378470.1:c.841G>A | NP_001365399.1:p.Gly281Arg | |
| NM_001378471.1:c.943G>A | NP_001365400.1:p.Gly315Arg | |
| NM_001378472.1:c.787G>A | NP_001365401.1:p.Gly263Arg | |
| NM_001378473.1:c.787G>A | NP_001365402.1:p.Gly263Arg | |
| NM_001378474.1:c.943G>A | NP_001365403.1:p.Gly315Arg | |
| NM_001378475.1:c.679G>A | NP_001365404.1:p.Gly227Arg |