Linked Data
ClinVar Variation Id:
2726291
ClinVar RCV Id:
RCV003584046
dbSNP Id:
rs1750664457
MyVariant Identifiers:
chr5:g.131925439G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132589747G>A , CM000667.2:g.132589747G>A | GRCh38 |
| NC_000005.9:g.131925439G>A , CM000667.1:g.131925439G>A | GRCh37 |
| NC_000005.8:g.131953338G>A | NCBI36 |
| NG_021151.1:g.37824G>A | |
| NG_021151.2:g.37771G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378823.8:c.1362G>A MANE Select | ENSP00000368100.4:p.Gln454= | |
| ENST00000638452.2:c.1065G>A | ENSP00000492349.2:p.Gln355= | |
| ENST00000638504.1:n.1048G>A | ||
| ENST00000638568.2:c.1065G>A | ENSP00000491158.2:p.Gln355= | |
| ENST00000639899.1:n.1881G>A | ||
| ENST00000640655.2:c.1065G>A | ENSP00000491596.2:p.Gln355= | |
| ENST00000651160.1:c.1362G>A | ENSP00000498829.1:p.Gln454= | |
| ENST00000651541.1:c.1065G>A | ENSP00000498795.1:p.Gln355= | |
| ENST00000651658.1:n.1789G>A | ||
| ENST00000651723.1:c.*1445G>A | ENSP00000498237.1:n.*1445G>A | |
| ENST00000652016.1:c.1362G>A | ENSP00000498267.1:p.Gln454= | |
| ENST00000652485.1:c.1362G>A | ENSP00000498973.1:p.Gln454= | |
| ENST00000378823.7:c.1362G>A | ENSP00000368100.4:p.Gln454= | |
| ENST00000423956.5:c.1362G>A | ENSP00000390971.1:p.Gln454= | |
| ENST00000453394.5:c.1362G>A | ENSP00000400049.1:p.Gln454= | |
| ENST00000533482.5:c.*988G>A | ENSP00000431225.1:n.*988G>A | |
| NM_005732.3:c.1362G>A | NP_005723.2:p.Gln454= | |
| NM_005732.4:c.1362G>A MANE Select | NP_005723.2:p.Gln454= |