Linked Data
ClinVar Variation Id:
1952677
ClinVar RCV Id:
RCV002671900
dbSNP Id:
rs749466673
ExAC:
5:131930733 C / A
gnomAD v2:
5-131930733-C-A
gnomAD v3:
5-132595041-C-A
gnomAD v4:
5-132595041-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132595041C>A , CM000667.2:g.132595041C>A | GRCh38 |
| NC_000005.9:g.131930733C>A , CM000667.1:g.131930733C>A | GRCh37 |
| NC_000005.8:g.131958632C>A | NCBI36 |
| NG_021151.1:g.43118C>A | |
| NG_021151.2:g.43065C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378823.8:c.1966C>A MANE Select | ENSP00000368100.4:p.Arg656= | |
| ENST00000638452.2:c.1669C>A | ENSP00000492349.2:p.Arg557= | |
| ENST00000638504.1:n.1480-63C>A | ||
| ENST00000638568.2:c.1669C>A | ENSP00000491158.2:p.Arg557= | |
| ENST00000639899.1:n.2485C>A | ||
| ENST00000640655.2:c.1669C>A | ENSP00000491596.2:p.Arg557= | |
| ENST00000651160.1:c.*16-63C>A | ENSP00000498829.1:n.*16-63C>A | |
| ENST00000651658.1:n.2509C>A | ||
| ENST00000651723.1:c.*2049C>A | ENSP00000498237.1:n.*2049C>A | |
| ENST00000652016.1:c.*89-63C>A | ENSP00000498267.1:n.*89-63C>A | |
| ENST00000652485.1:c.1999C>A | ENSP00000498973.1:p.Arg667= | |
| ENST00000378823.7:c.1966C>A | ENSP00000368100.4:p.Arg656= | |
| ENST00000423956.5:c.*152C>A | ENSP00000390971.1:n.*152C>A | |
| ENST00000453394.5:c.1783C>A | ENSP00000400049.1:p.Arg595= | |
| ENST00000533482.5:c.*1592C>A | ENSP00000431225.1:n.*1592C>A | |
| NM_005732.3:c.1966C>A | NP_005723.2:p.Arg656= | |
| NM_005732.4:c.1966C>A MANE Select | NP_005723.2:p.Arg656= |