Linked Data
ClinVar Variation Id:
126999
dbSNP Id:
rs104895046
ExAC:
5:131924441 C / T
gnomAD v2:
5-131924441-C-T
gnomAD v4:
5-132588749-C-T
PubMed:
PMID:20805886
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132588749C>T , CM000667.2:g.132588749C>T | GRCh38 |
| NC_000005.9:g.131924441C>T , CM000667.1:g.131924441C>T | GRCh37 |
| NC_000005.8:g.131952340C>T | NCBI36 |
| NG_021151.1:g.36826C>T | |
| NG_021151.2:g.36773C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378823.8:c.1114C>T MANE Select | ENSP00000368100.4:p.Gln372Ter | |
| ENST00000638452.2:c.817C>T | ENSP00000492349.2:p.Gln273Ter | |
| ENST00000638504.1:n.800C>T | ||
| ENST00000638568.2:c.817C>T | ENSP00000491158.2:p.Gln273Ter | |
| ENST00000639899.1:n.1633C>T | ||
| ENST00000640655.2:c.817C>T | ENSP00000491596.2:p.Gln273Ter | |
| ENST00000651160.1:c.1114C>T | ENSP00000498829.1:p.Gln372Ter | |
| ENST00000651541.1:c.817C>T | ENSP00000498795.1:p.Gln273Ter | |
| ENST00000651658.1:n.1541C>T | ||
| ENST00000651723.1:c.*1197C>T | ENSP00000498237.1:n.*1197C>T | |
| ENST00000652016.1:c.1114C>T | ENSP00000498267.1:p.Gln372Ter | |
| ENST00000652485.1:c.1114C>T | ENSP00000498973.1:p.Gln372Ter | |
| ENST00000378823.7:c.1114C>T | ENSP00000368100.4:p.Gln372Ter | |
| ENST00000423956.5:c.1114C>T | ENSP00000390971.1:p.Gln372Ter | |
| ENST00000453394.5:c.1114C>T | ENSP00000400049.1:p.Gln372Ter | |
| ENST00000487596.1:n.680C>T | ||
| ENST00000533482.5:c.*740C>T | ENSP00000431225.1:n.*740C>T | |
| NM_005732.3:c.1114C>T | NP_005723.2:p.Gln372Ter | |
| NM_005732.4:c.1114C>T MANE Select | NP_005723.2:p.Gln372Ter |