Linked Data
ClinVar Variation Id:
47990
dbSNP Id:
rs146451547
ExAC:
11:17526211 G / A
gnomAD v2:
11-17526211-G-A
gnomAD v3:
11-17504664-G-A
gnomAD v4:
11-17504664-G-A
PubMed:
PMID:12136232
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17504664G>A , CM000673.2:g.17504664G>A | GRCh38 |
| NC_000011.9:g.17526211G>A , CM000673.1:g.17526211G>A | GRCh37 |
| NC_000011.8:g.17482787G>A | NCBI36 |
| NG_011883.1:g.44753C>T | |
| NG_011883.2:g.44753C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000005226.12:c.2167C>T MANE Select | ENSP00000005226.7:p.Gln723Ter | |
| ENST00000318024.9:c.1285-2684C>T MANE Plus Clinical | ENSP00000317018.4:n.1285-2684C>T | |
| ENST00000005226.11:c.2167C>T | ENSP00000005226.7:p.Gln723Ter | |
| ENST00000318024.8:c.1285-2684C>T | ENSP00000317018.4:n.1285-2684C>T | |
| ENST00000526313.5:c.1211-2684C>T | ENSP00000432236.1:n.1211-2684C>T | |
| ENST00000527020.5:c.1228-2684C>T | ENSP00000436934.1:n.1228-2684C>T | |
| ENST00000527720.5:c.1192-2684C>T | ENSP00000432944.1:n.1192-2684C>T | |
| ENST00000529563.5:n.169-2684C>T | ||
| NM_001297764.1:c.1228-2684C>T | NP_001284693.1:n.1228-2684C>T | |
| NM_005709.3:c.1285-2684C>T | NP_005700.2:n.1285-2684C>T | |
| NM_153676.3:c.2167C>T | NP_710142.1:p.Gln723Ter | |
| NR_123738.1:n.1320-2684C>T | ||
| XM_011519831.1:c.2191C>T | XP_011518133.1:p.Gln731Ter | |
| XM_011519832.1:c.1438-2684C>T | XP_011518134.1:n.1438-2684C>T | |
| XM_011519833.1:c.1335-2684C>T | XP_011518135.1:n.1335-2684C>T | |
| XR_930841.1:n.1656-2684C>T | ||
| XR_930842.1:n.1597-2684C>T | ||
| XM_011519832.3:c.1438-2684C>T | XP_011518134.1:n.1438-2684C>T | |
| XM_017017072.1:c.*4458C>T | XP_016872561.1:n.*4458C>T | |
| XM_017017073.1:c.*4458C>T | XP_016872562.1:n.*4458C>T | |
| XM_017017074.1:c.*4458C>T | XP_016872563.1:n.*4458C>T | |
| XM_017017075.1:c.2167C>T | XP_016872564.1:p.Gln723Ter | |
| XR_001747717.2:n.1444-2684C>T | ||
| NM_153676.4:c.2167C>T MANE Select | NP_710142.1:p.Gln723Ter | |
| NM_001297764.2:c.1228-2684C>T | NP_001284693.1:n.1228-2684C>T | |
| NM_005709.4:c.1285-2684C>T MANE Plus Clinical | NP_005700.2:n.1285-2684C>T | |
| NR_123738.2:n.1320-2684C>T |