Linked Data
ClinVar Variation Id:
141646
dbSNP Id:
rs587781904
ExAC:
5:131930725 C / A
gnomAD v2:
5-131930725-C-A
gnomAD v3:
5-132595033-C-A
gnomAD v4:
5-132595033-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132595033C>A , CM000667.2:g.132595033C>A | GRCh38 |
| NC_000005.9:g.131930725C>A , CM000667.1:g.131930725C>A | GRCh37 |
| NC_000005.8:g.131958624C>A | NCBI36 |
| NG_021151.1:g.43110C>A | |
| NG_021151.2:g.43057C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378823.8:c.1958C>A MANE Select | ENSP00000368100.4:p.Ser653Ter | |
| ENST00000638452.2:c.1661C>A | ENSP00000492349.2:p.Ser554Ter | |
| ENST00000638504.1:n.1480-71C>A | ||
| ENST00000638568.2:c.1661C>A | ENSP00000491158.2:p.Ser554Ter | |
| ENST00000639899.1:n.2477C>A | ||
| ENST00000640655.2:c.1661C>A | ENSP00000491596.2:p.Ser554Ter | |
| ENST00000651160.1:c.*16-71C>A | ENSP00000498829.1:n.*16-71C>A | |
| ENST00000651658.1:n.2501C>A | ||
| ENST00000651723.1:c.*2041C>A | ENSP00000498237.1:n.*2041C>A | |
| ENST00000652016.1:c.*89-71C>A | ENSP00000498267.1:n.*89-71C>A | |
| ENST00000652485.1:c.1991C>A | ENSP00000498973.1:p.Ser664Ter | |
| ENST00000378823.7:c.1958C>A | ENSP00000368100.4:p.Ser653Ter | |
| ENST00000423956.5:c.*144C>A | ENSP00000390971.1:n.*144C>A | |
| ENST00000453394.5:c.1775C>A | ENSP00000400049.1:p.Ser592Ter | |
| ENST00000533482.5:c.*1584C>A | ENSP00000431225.1:n.*1584C>A | |
| NM_005732.3:c.1958C>A | NP_005723.2:p.Ser653Ter | |
| NM_005732.4:c.1958C>A MANE Select | NP_005723.2:p.Ser653Ter |