Linked Data
ClinVar Variation Id:
44826
dbSNP Id:
rs61730029
ExAC:
7:140534430 C / G
gnomAD v2:
7-140534430-C-G
gnomAD v3:
7-140834630-C-G
gnomAD v4:
7-140834630-C-G
ERepo:
CA135128/MONDO:0021060/004
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.140834630C>G , CM000669.2:g.140834630C>G | GRCh38 |
| NC_000007.13:g.140534430C>G , CM000669.1:g.140534430C>G | GRCh37 |
| NC_000007.12:g.140180899C>G | NCBI36 |
| NG_007873.3:g.95135G>C , LRG_299:g.95135G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000646891.2:c.483G>C MANE Select | ENSP00000493543.1:p.Leu161= | |
| ENST00000288602.11:c.483G>C | ENSP00000288602.7:p.Leu161= | |
| ENST00000469930.2:c.483G>C | ENSP00000495858.1:p.Leu161= | |
| ENST00000496384.7:c.483G>C | ENSP00000419060.2:p.Leu161= | |
| ENST00000497784.2:c.483G>C | ENSP00000420119.2:p.Leu161= | |
| ENST00000642228.1:c.483G>C | ENSP00000493678.1:p.Leu161= | |
| ENST00000642272.1:n.506G>C | ||
| ENST00000642808.1:n.314G>C | ||
| ENST00000643790.1:n.486G>C | ||
| ENST00000644905.1:n.492G>C | ||
| ENST00000644969.2:c.483G>C MANE Plus Clinical | ENSP00000496776.1:p.Leu161= | |
| ENST00000646427.1:n.1604G>C | ||
| ENST00000646730.1:c.483G>C | ENSP00000494784.1:p.Leu161= | |
| ENST00000646891.1:c.483G>C | ENSP00000493543.1:p.Leu161= | |
| ENST00000288602.10:c.483G>C | ENSP00000288602.6:p.Leu161= | |
| ENST00000469930.1:n.489G>C | ||
| ENST00000497784.1:c.438G>C | ENSP00000420119.1:p.Leu146= | |
| NM_004333.4:c.483G>C , LRG_299t1:c.483G>C | NP_004324.2:p.Leu161= | |
| XM_005250045.1:c.483G>C | XP_005250102.1:p.Leu161= | |
| XM_005250046.1:c.483G>C | XP_005250103.1:p.Leu161= | |
| XM_011516529.1:c.483G>C | XP_011514831.1:p.Leu161= | |
| XM_011516530.1:c.483G>C | XP_011514832.1:p.Leu161= | |
| XR_242190.1:n.491G>C | ||
| XR_927520.1:n.491G>C | ||
| XR_927521.1:n.491G>C | ||
| XR_927522.1:n.491G>C | ||
| XR_927523.1:n.491G>C | ||
| NM_001354609.1:c.483G>C | NP_001341538.1:p.Leu161= | |
| NM_004333.5:c.483G>C | NP_004324.2:p.Leu161= | |
| NR_148928.1:n.708G>C | ||
| XM_017012558.1:c.483G>C | XP_016868047.1:p.Leu161= | |
| XM_017012559.1:c.483G>C | XP_016868048.1:p.Leu161= | |
| XR_001744857.1:n.491G>C | ||
| XR_001744858.1:n.491G>C | ||
| NM_001354609.2:c.483G>C | NP_001341538.1:p.Leu161= | |
| NM_001374244.1:c.483G>C | NP_001361173.1:p.Leu161= | |
| NM_001374258.1:c.483G>C MANE Plus Clinical | NP_001361187.1:p.Leu161= | |
| NM_004333.6:c.483G>C MANE Select | NP_004324.2:p.Leu161= | |
| NM_001378467.1:c.483G>C | NP_001365396.1:p.Leu161= | |
| NM_001378468.1:c.483G>C | NP_001365397.1:p.Leu161= | |
| NM_001378469.1:c.483G>C | NP_001365398.1:p.Leu161= | |
| NM_001378470.1:c.381G>C | NP_001365399.1:p.Leu127= | |
| NM_001378471.1:c.483G>C | NP_001365400.1:p.Leu161= | |
| NM_001378472.1:c.327G>C | NP_001365401.1:p.Leu109= | |
| NM_001378473.1:c.327G>C | NP_001365402.1:p.Leu109= | |
| NM_001378474.1:c.483G>C | NP_001365403.1:p.Leu161= | |
| NM_001378475.1:c.240+15481G>C | NP_001365404.1:n.240+15481G>C |