Linked Data
ClinVar Variation Id:
359042
dbSNP Id:
rs539860876
gnomAD v3:
7-140734486-G-A
gnomAD v4:
7-140734486-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.140734486G>A , CM000669.2:g.140734486G>A | GRCh38 |
| NC_000007.13:g.140434286G>A , CM000669.1:g.140434286G>A | GRCh37 |
| NC_000007.12:g.140080755G>A | NCBI36 |
| NG_007873.3:g.195279C>T , LRG_299:g.195279C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000646891.2:c.*111C>T MANE Select | ENSP00000493543.1:n.*111C>T | |
| ENST00000288602.11:c.*111C>T | ENSP00000288602.7:n.*111C>T | |
| ENST00000496384.7:c.2281+131C>T | ENSP00000419060.2:n.2281+131C>T | |
| ENST00000642228.1:c.*1490C>T | ENSP00000493678.1:n.*1490C>T | |
| ENST00000642875.1:n.1679+131C>T | ||
| ENST00000644120.1:n.2517+5326C>T | ||
| ENST00000644905.1:n.3294C>T | ||
| ENST00000644969.2:c.2401+131C>T MANE Plus Clinical | ENSP00000496776.1:n.2401+131C>T | |
| ENST00000646891.1:c.*111C>T | ENSP00000493543.1:n.*111C>T | |
| ENST00000288602.10:c.*111C>T | ENSP00000288602.6:n.*111C>T | |
| ENST00000496384.6:c.1104+131C>T | ||
| NM_004333.4:c.*111C>T , LRG_299t1:c.*111C>T | NP_004324.2:n.*111C>T | |
| XM_005250045.1:c.2281+131C>T | XP_005250102.1:n.2281+131C>T | |
| XM_005250046.1:c.2127+5326C>T | XP_005250103.1:n.2127+5326C>T | |
| XM_011516529.1:c.2127+5326C>T | XP_011514831.1:n.2127+5326C>T | |
| NM_001354609.1:c.2281+131C>T | NP_001341538.1:n.2281+131C>T | |
| NM_004333.5:c.*111C>T | NP_004324.2:n.*111C>T | |
| NR_148928.1:n.3510C>T | ||
| XM_017012558.1:c.2401+131C>T | XP_016868047.1:n.2401+131C>T | |
| XM_017012559.1:c.2247+5326C>T | XP_016868048.1:n.2247+5326C>T | |
| XR_001744857.1:n.2622C>T | ||
| XR_001744858.1:n.2243+131C>T | ||
| NM_001354609.2:c.2281+131C>T | NP_001341538.1:n.2281+131C>T | |
| NM_001374244.1:c.*111C>T | NP_001361173.1:n.*111C>T | |
| NM_001374258.1:c.2401+131C>T MANE Plus Clinical | NP_001361187.1:n.2401+131C>T | |
| NM_004333.6:c.*111C>T MANE Select | NP_004324.2:n.*111C>T | |
| NM_001378467.1:c.2290+131C>T | NP_001365396.1:n.2290+131C>T | |
| NM_001378468.1:c.2127+5326C>T | NP_001365397.1:n.2127+5326C>T | |
| NM_001378469.1:c.*111C>T | NP_001365398.1:n.*111C>T | |
| NM_001378470.1:c.2179+131C>T | NP_001365399.1:n.2179+131C>T | |
| NM_001378471.1:c.2170+131C>T | NP_001365400.1:n.2170+131C>T | |
| NM_001378472.1:c.2125+131C>T | NP_001365401.1:n.2125+131C>T | |
| NM_001378473.1:c.*111C>T | NP_001365402.1:n.*111C>T | |
| NM_001378474.1:c.2127+5326C>T | NP_001365403.1:n.2127+5326C>T | |
| NM_001378475.1:c.2017+131C>T | NP_001365404.1:n.2017+131C>T |