Linked Data
ClinVar Variation Id:
1716
dbSNP Id:
rs121434324
ExAC:
5:60240799 C / A
gnomAD v2:
5-60240799-C-A
gnomAD v3:
5-60944972-C-A
gnomAD v4:
5-60944972-C-A
PubMed:
PMID:14661080
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.60944972C>A , CM000667.2:g.60944972C>A | GRCh38 |
| NC_000005.9:g.60240799C>A , CM000667.1:g.60240799C>A | GRCh37 |
| NC_000005.8:g.60276556C>A | NCBI36 |
| NG_008978.1:g.4844C>A | |
| NG_009289.1:g.5107G>T , LRG_466:g.5107G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000439176.6:c.37G>T | ENSP00000408344.2:p.Glu13Ter | |
| ENST00000647431.2:c.37G>T | ENSP00000494726.2:p.Glu13Ter | |
| ENST00000647486.2:c.37G>T | ENSP00000494466.2:p.Glu13Ter | |
| ENST00000675042.2:c.-180G>T | ENSP00000502082.2:n.-180G>T | |
| ENST00000675452.2:c.37G>T | ENSP00000506954.1:p.Glu13Ter | |
| ENST00000682041.1:n.87G>T | ||
| ENST00000682217.1:c.37G>T | ENSP00000507570.1:p.Glu13Ter | |
| ENST00000682246.1:n.93G>T | ||
| ENST00000682375.1:c.-180G>T | ENSP00000507551.1:n.-180G>T | |
| ENST00000682380.1:n.93G>T | ||
| ENST00000682418.1:n.93G>T | ||
| ENST00000682874.1:n.87G>T | ||
| ENST00000683052.1:c.37G>T | ENSP00000507072.1:p.Glu13Ter | |
| ENST00000683199.1:n.59G>T | ||
| ENST00000683460.1:c.37G>T | ENSP00000507820.1:p.Glu13Ter | |
| ENST00000684394.1:n.92G>T | ||
| ENST00000684453.1:n.87G>T | ||
| ENST00000684621.1:n.93G>T | ||
| ENST00000265038.10:c.37G>T | ENSP00000265038.6:p.Glu13Ter | |
| ENST00000497892.6:c.37G>T | ENSP00000501805.1:p.Glu13Ter | |
| ENST00000643034.1:c.37G>T | ENSP00000496080.1:p.Glu13Ter | |
| ENST00000643708.1:c.37G>T | ENSP00000494199.1:p.Glu13Ter | |
| ENST00000675042.1:c.-180G>T | ENSP00000502082.1:n.-180G>T | |
| ENST00000675229.1:c.37G>T | ENSP00000502154.1:p.Glu13Ter | |
| ENST00000675378.1:c.37G>T | ENSP00000502535.1:p.Glu13Ter | |
| ENST00000676185.1:c.37G>T MANE Select | ENSP00000501614.1:p.Glu13Ter | |
| ENST00000265038.9:c.37G>T | ENSP00000265038.5:p.Glu13Ter | |
| ENST00000381118.7:c.37G>T | ENSP00000370510.3:p.Glu13Ter | |
| ENST00000439176.5:c.-180G>T | ENSP00000408344.1:n.-180G>T | |
| ENST00000477893.1:n.88G>T | ||
| ENST00000497892.5:n.80G>T | ||
| NM_000082.3:c.37G>T , LRG_466t1:c.37G>T | NP_000073.1:p.Glu13Ter | |
| NM_001007233.2:c.-356G>T | NP_001007234.1:n.-356G>T | |
| NM_001007234.2:c.37G>T | NP_001007235.1:p.Glu13Ter | |
| NM_001290285.1:c.-341G>T | NP_001277214.1:n.-341G>T | |
| NM_001007234.3:c.37G>T | NP_001007235.1:p.Glu13Ter | |
| NM_000082.4:c.37G>T MANE Select | NP_000073.1:p.Glu13Ter | |
| NM_001007233.3:c.-356G>T | NP_001007234.1:n.-356G>T | |
| NM_001290285.2:c.-341G>T | NP_001277214.1:n.-341G>T |