Linked Data
ClinVar Variation Id:
408414
ClinVar RCV Id:
RCV000467015
dbSNP Id:
rs1060501973
gnomAD v4:
5-132604850-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132604850C>T , CM000667.2:g.132604850C>T | GRCh38 |
| NC_000005.9:g.131940542C>T , CM000667.1:g.131940542C>T | GRCh37 |
| NC_000005.8:g.131968441C>T | NCBI36 |
| NG_021151.1:g.52927C>T | |
| NG_021151.2:g.52874C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378823.8:c.2569C>T MANE Select | ENSP00000368100.4:p.Gln857Ter | |
| ENST00000638452.2:c.2272C>T | ENSP00000492349.2:p.Gln758Ter | |
| ENST00000638504.1:n.2177C>T | ||
| ENST00000638568.2:c.2272C>T | ENSP00000491158.2:p.Gln758Ter | |
| ENST00000639899.1:n.3088C>T | ||
| ENST00000640655.2:c.2272C>T | ENSP00000491596.2:p.Gln758Ter | |
| ENST00000651160.1:c.*713C>T | ENSP00000498829.1:n.*713C>T | |
| ENST00000651723.1:c.*2652C>T | ENSP00000498237.1:n.*2652C>T | |
| ENST00000652016.1:c.*786C>T | ENSP00000498267.1:n.*786C>T | |
| ENST00000652485.1:c.2602C>T | ENSP00000498973.1:p.Gln868Ter | |
| ENST00000378823.7:c.2569C>T | ENSP00000368100.4:p.Gln857Ter | |
| ENST00000423956.5:c.*755C>T | ENSP00000390971.1:n.*755C>T | |
| ENST00000533482.5:c.*2195C>T | ENSP00000431225.1:n.*2195C>T | |
| NM_005732.3:c.2569C>T | NP_005723.2:p.Gln857Ter | |
| NM_005732.4:c.2569C>T MANE Select | NP_005723.2:p.Gln857Ter |