Linked Data
ClinVar Variation Id:
128241
dbSNP Id:
rs202210819
ExAC:
20:21117104 C / T
gnomAD v2:
20-21117104-C-T
gnomAD v3:
20-21136463-C-T
gnomAD v4:
20-21136463-C-T
PubMed:
PMID:24680887
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.21136463C>T , CM000682.2:g.21136463C>T | GRCh38 |
| NC_000020.10:g.21117104C>T , CM000682.1:g.21117104C>T | GRCh37 |
| NC_000020.9:g.21065104C>T | NCBI36 |
| NG_033122.1:g.15481C>T | |
| NG_033122.2:g.15484C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000619189.5:c.226C>T MANE Select | ENSP00000479542.1:p.Arg76Ter | |
| ENST00000611685.4:c.167-9102C>T | ||
| ENST00000616848.4:c.6+4304C>T | ENSP00000480612.1:n.6+4304C>T | |
| ENST00000619189.4:c.226C>T | ENSP00000479542.1:p.Arg76Ter | |
| ENST00000619574.4:c.169-9102C>T | ENSP00000484706.1:n.169-9102C>T | |
| ENST00000620553.2:n.282C>T | ||
| ENST00000620891.4:c.6+4304C>T | ENSP00000478019.1:n.6+4304C>T | |
| NM_001163022.1:c.6+4304C>T | NP_001156494.1:n.6+4304C>T | |
| NM_001163023.1:c.6+4304C>T | NP_001156495.1:n.6+4304C>T | |
| NM_001276389.1:c.169-9102C>T | NP_001263318.1:n.169-9102C>T | |
| NM_018474.4:c.226C>T | NP_060944.3:p.Arg76Ter | |
| XM_011529296.1:c.226C>T | XP_011527598.1:p.Arg76Ter | |
| XM_011529297.1:c.226C>T | XP_011527599.1:p.Arg76Ter | |
| XM_011529298.1:c.226C>T | XP_011527600.1:p.Arg76Ter | |
| XM_011529299.1:c.6+4304C>T | XP_011527601.1:n.6+4304C>T | |
| XR_937105.1:n.350C>T | ||
| NM_001163022.2:c.6+4304C>T | NP_001156494.1:n.6+4304C>T | |
| NM_001163023.2:c.6+4304C>T | NP_001156495.1:n.6+4304C>T | |
| NM_001276389.2:c.169-9102C>T | NP_001263318.1:n.169-9102C>T | |
| NM_001352434.1:c.226C>T | NP_001339363.1:p.Arg76Ter | |
| NM_001352435.1:c.6+4304C>T | NP_001339364.1:n.6+4304C>T | |
| NM_001352436.1:c.-161C>T | NP_001339365.1:n.-161C>T | |
| NM_018474.5:c.226C>T | NP_060944.3:p.Arg76Ter | |
| XM_011529296.3:c.226C>T | XP_011527598.1:p.Arg76Ter | |
| XM_011529297.3:c.226C>T | XP_011527599.1:p.Arg76Ter | |
| XM_011529299.3:c.6+4304C>T | XP_011527601.1:n.6+4304C>T | |
| XM_017027951.2:c.-161C>T | XP_016883440.1:n.-161C>T | |
| XM_017027952.2:c.6+4304C>T | XP_016883441.1:n.6+4304C>T | |
| XR_001754334.2:n.292C>T | ||
| XR_937105.3:n.292C>T | ||
| NM_018474.6:c.226C>T MANE Select | NP_060944.3:p.Arg76Ter | |
| NM_001163022.3:c.6+4304C>T | NP_001156494.1:n.6+4304C>T | |
| NM_001163023.3:c.6+4304C>T | NP_001156495.1:n.6+4304C>T | |
| NM_001352434.2:c.226C>T | NP_001339363.1:p.Arg76Ter | |
| NM_001352435.2:c.6+4304C>T | NP_001339364.1:n.6+4304C>T | |
| NM_001352436.2:c.-161C>T | NP_001339365.1:n.-161C>T |