Linked Data
ClinVar Variation Id:
2928
ClinVar RCV Id:
RCV000003062
dbSNP Id:
rs137853125
ExAC:
5:133944178 C / A
gnomAD v2:
5-133944178-C-A
gnomAD v4:
5-134608488-C-A
COSMIC:
COSM3850192
PubMed:
PMID:17945526
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.134608488C>A , CM000667.2:g.134608488C>A | GRCh38 |
| NC_000005.9:g.133944178C>A , CM000667.1:g.133944178C>A | GRCh37 |
| NC_000005.8:g.133972077C>A | NCBI36 |
| NG_017002.1:g.29356G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000402673.7:c.364G>T MANE Select | ENSP00000385432.2:p.Glu122Ter | |
| ENST00000402673.6:c.364G>T | ENSP00000385432.2:p.Glu122Ter | |
| ENST00000439578.5:c.364G>T | ENSP00000404997.1:p.Glu122Ter | |
| ENST00000502539.5:c.160G>T | ENSP00000426335.1:p.Glu54Ter | |
| ENST00000503318.5:c.*87G>T | ENSP00000425367.1:n.*87G>T | |
| ENST00000505758.5:c.364G>T | ENSP00000425466.1:p.Glu122Ter | |
| ENST00000507419.5:c.160G>T | ENSP00000425339.1:p.Glu54Ter | |
| ENST00000508363.5:n.2333G>T | ||
| ENST00000509730.5:c.160G>T | ENSP00000423197.1:p.Glu54Ter | |
| ENST00000509937.5:c.160G>T | ENSP00000424673.1:p.Glu54Ter | |
| NM_001033503.2:c.364G>T | NP_001028675.1:p.Glu122Ter | |
| NM_016103.3:c.364G>T | NP_057187.1:p.Glu122Ter | |
| NM_016103.4:c.364G>T MANE Select | NP_057187.1:p.Glu122Ter | |
| NM_001033503.3:c.364G>T | NP_001028675.1:p.Glu122Ter |