Linked Data
ClinVar Variation Id:
1797010
ClinVar RCV Id:
RCV002437635
MyVariant Identifiers:
chr5:g.131944847C>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132609155C>A , CM000667.2:g.132609155C>A | GRCh38 |
| NC_000005.9:g.131944847C>A , CM000667.1:g.131944847C>A | GRCh37 |
| NC_000005.8:g.131972746C>A | NCBI36 |
| NG_021151.1:g.57232C>A | |
| NG_021151.2:g.57179C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378823.8:c.2868C>A MANE Select | ENSP00000368100.4:p.Gly956= | |
| ENST00000638452.2:c.2571C>A | ENSP00000492349.2:p.Gly857= | |
| ENST00000638504.1:n.2476C>A | ||
| ENST00000638568.2:c.2571C>A | ENSP00000491158.2:p.Gly857= | |
| ENST00000639899.1:n.3387C>A | ||
| ENST00000640655.2:c.2571C>A | ENSP00000491596.2:p.Gly857= | |
| ENST00000651160.1:c.*1012C>A | ENSP00000498829.1:n.*1012C>A | |
| ENST00000651723.1:c.*2951C>A | ENSP00000498237.1:n.*2951C>A | |
| ENST00000378823.7:c.2868C>A | ENSP00000368100.4:p.Gly956= | |
| ENST00000423956.5:c.*1054C>A | ENSP00000390971.1:n.*1054C>A | |
| ENST00000533482.5:c.*2494C>A | ENSP00000431225.1:n.*2494C>A | |
| NM_005732.3:c.2868C>A | NP_005723.2:p.Gly956= | |
| NM_005732.4:c.2868C>A MANE Select | NP_005723.2:p.Gly956= |