Linked Data
ClinVar Variation Id:
1209665
dbSNP Id:
rs757163581
ExAC:
11:17523040 G / A
gnomAD v2:
11-17523040-G-A
gnomAD v3:
11-17501493-G-A
gnomAD v4:
11-17501493-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17501493G>A , CM000673.2:g.17501493G>A | GRCh38 |
| NC_000011.9:g.17523040G>A , CM000673.1:g.17523040G>A | GRCh37 |
| NC_000011.8:g.17479616G>A | NCBI36 |
| NG_011883.1:g.47924C>T | |
| NG_011883.2:g.47924C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000005226.12:c.2269C>T MANE Select | ENSP00000005226.7:p.Arg757Cys | |
| ENST00000318024.9:c.1369C>T MANE Plus Clinical | ENSP00000317018.4:p.Arg457Cys | |
| ENST00000005226.11:c.2269C>T | ENSP00000005226.7:p.Arg757Cys | |
| ENST00000318024.8:c.1369C>T | ENSP00000317018.4:p.Arg457Cys | |
| ENST00000526313.5:c.*83C>T | ENSP00000432236.1:n.*83C>T | |
| ENST00000527020.5:c.1312C>T | ENSP00000436934.1:p.Arg438Cys | |
| ENST00000527720.5:c.1276C>T | ENSP00000432944.1:p.Arg426Cys | |
| ENST00000529563.5:n.253C>T | ||
| ENST00000534556.1:n.154C>T | ||
| NM_001297764.1:c.1312C>T | NP_001284693.1:p.Arg438Cys | |
| NM_005709.3:c.1369C>T | NP_005700.2:p.Arg457Cys | |
| NM_153676.3:c.2269C>T | NP_710142.1:p.Arg757Cys | |
| NR_123738.1:n.1404C>T | ||
| XM_011519831.1:c.2293C>T | XP_011518133.1:p.Arg765Cys | |
| XM_011519832.1:c.1522C>T | XP_011518134.1:p.Arg508Cys | |
| XM_011519833.1:c.1419C>T | XP_011518135.1:p.Tyr473= | |
| XR_930841.1:n.1740C>T | ||
| XR_930842.1:n.1681C>T | ||
| XM_011519832.3:c.1522C>T | XP_011518134.1:p.Arg508Cys | |
| XM_017017075.1:c.2269C>T | XP_016872564.1:p.Arg757Cys | |
| XR_001747717.2:n.1528C>T | ||
| NM_153676.4:c.2269C>T MANE Select | NP_710142.1:p.Arg757Cys | |
| NM_001297764.2:c.1312C>T | NP_001284693.1:p.Arg438Cys | |
| NM_005709.4:c.1369C>T MANE Plus Clinical | NP_005700.2:p.Arg457Cys | |
| NR_123738.2:n.1404C>T |