Linked Data
ClinVar Variation Id:
128242
dbSNP Id:
rs587777376
gnomAD v3:
20-21126167-G-T
gnomAD v4:
20-21126167-G-T
PubMed:
PMID:24680887
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.21126167G>T , CM000682.2:g.21126167G>T | GRCh38 |
| NC_000020.10:g.21106808G>T , CM000682.1:g.21106808G>T | GRCh37 |
| NC_000020.9:g.21054808G>T | NCBI36 |
| NG_033122.1:g.5185G>T | |
| NG_033122.2:g.5188G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000619189.5:c.52G>T MANE Select | ENSP00000479542.1:p.Glu18Ter | |
| ENST00000611685.4:c.129G>T | ||
| ENST00000612654.1:c.52G>T | ENSP00000480859.1:p.Glu18Ter | |
| ENST00000616848.4:c.-95G>T | ENSP00000480612.1:n.-95G>T | |
| ENST00000619189.4:c.52G>T | ENSP00000479542.1:p.Glu18Ter | |
| ENST00000619574.4:c.131G>T | ENSP00000484706.1:p.Arg44Leu | |
| ENST00000620553.2:n.108G>T | ||
| ENST00000620891.4:c.-95G>T | ENSP00000478019.1:n.-95G>T | |
| ENST00000622184.4:n.130G>T | ||
| NM_001163022.1:c.-95G>T | NP_001156494.1:n.-95G>T | |
| NM_001163023.1:c.-95G>T | NP_001156495.1:n.-95G>T | |
| NM_001276389.1:c.131G>T | NP_001263318.1:p.Arg44Leu | |
| NM_018474.4:c.52G>T | NP_060944.3:p.Glu18Ter | |
| XM_011529296.1:c.52G>T | XP_011527598.1:p.Glu18Ter | |
| XM_011529297.1:c.52G>T | XP_011527599.1:p.Glu18Ter | |
| XM_011529298.1:c.52G>T | XP_011527600.1:p.Glu18Ter | |
| XM_011529299.1:c.-95G>T | XP_011527601.1:n.-95G>T | |
| XR_937105.1:n.176G>T | ||
| NM_001163022.2:c.-95G>T | NP_001156494.1:n.-95G>T | |
| NM_001163023.2:c.-95G>T | NP_001156495.1:n.-95G>T | |
| NM_001276389.2:c.131G>T | NP_001263318.1:p.Arg44Leu | |
| NM_001352434.1:c.52G>T | NP_001339363.1:p.Glu18Ter | |
| NM_001352435.1:c.-95G>T | NP_001339364.1:n.-95G>T | |
| NM_001352436.1:c.-335G>T | NP_001339365.1:n.-335G>T | |
| NM_018474.5:c.52G>T | NP_060944.3:p.Glu18Ter | |
| XM_011529296.3:c.52G>T | XP_011527598.1:p.Glu18Ter | |
| XM_011529297.3:c.52G>T | XP_011527599.1:p.Glu18Ter | |
| XM_011529299.3:c.-95G>T | XP_011527601.1:n.-95G>T | |
| XM_017027951.2:c.-335G>T | XP_016883440.1:n.-335G>T | |
| XM_017027952.2:c.-95G>T | XP_016883441.1:n.-95G>T | |
| XR_001754334.2:n.118G>T | ||
| XR_937105.3:n.118G>T | ||
| NM_018474.6:c.52G>T MANE Select | NP_060944.3:p.Glu18Ter | |
| NM_001163022.3:c.-95G>T | NP_001156494.1:n.-95G>T | |
| NM_001163023.3:c.-95G>T | NP_001156495.1:n.-95G>T | |
| NM_001352434.2:c.52G>T | NP_001339363.1:p.Glu18Ter | |
| NM_001352435.2:c.-95G>T | NP_001339364.1:n.-95G>T | |
| NM_001352436.2:c.-335G>T | NP_001339365.1:n.-335G>T |