Linked Data
ClinVar Variation Id:
233413
ClinVar RCV Id:
RCV000221374
dbSNP Id:
rs876660389
gnomAD v3:
5-132604888-G-A
gnomAD v4:
5-132604888-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132604888G>A , CM000667.2:g.132604888G>A | GRCh38 |
| NC_000005.9:g.131940580G>A , CM000667.1:g.131940580G>A | GRCh37 |
| NC_000005.8:g.131968479G>A | NCBI36 |
| NG_021151.1:g.52965G>A | |
| NG_021151.2:g.52912G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378823.8:c.2607G>A MANE Select | ENSP00000368100.4:p.Glu869= | |
| ENST00000638452.2:c.2310G>A | ENSP00000492349.2:p.Glu770= | |
| ENST00000638504.1:n.2215G>A | ||
| ENST00000638568.2:c.2310G>A | ENSP00000491158.2:p.Glu770= | |
| ENST00000639899.1:n.3126G>A | ||
| ENST00000640655.2:c.2310G>A | ENSP00000491596.2:p.Glu770= | |
| ENST00000651160.1:c.*751G>A | ENSP00000498829.1:n.*751G>A | |
| ENST00000651723.1:c.*2690G>A | ENSP00000498237.1:n.*2690G>A | |
| ENST00000652016.1:c.*824G>A | ENSP00000498267.1:n.*824G>A | |
| ENST00000652485.1:c.2640G>A | ENSP00000498973.1:p.Glu880= | |
| ENST00000378823.7:c.2607G>A | ENSP00000368100.4:p.Glu869= | |
| ENST00000423956.5:c.*793G>A | ENSP00000390971.1:n.*793G>A | |
| ENST00000533482.5:c.*2233G>A | ENSP00000431225.1:n.*2233G>A | |
| NM_005732.3:c.2607G>A | NP_005723.2:p.Glu869= | |
| NM_005732.4:c.2607G>A MANE Select | NP_005723.2:p.Glu869= |