Linked Data
ClinVar Variation Id:
819948
ClinVar RCV Id:
RCV001012913
dbSNP Id:
rs1580994923
MyVariant Identifiers:
chr5:g.131927673A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132591981A>G , CM000667.2:g.132591981A>G | GRCh38 |
| NC_000005.9:g.131927673A>G , CM000667.1:g.131927673A>G | GRCh37 |
| NC_000005.8:g.131955572A>G | NCBI36 |
| NG_021151.1:g.40058A>G | |
| NG_021151.2:g.40005A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378823.8:c.1740A>G MANE Select | ENSP00000368100.4:p.Leu580= | |
| ENST00000638452.2:c.1443A>G | ENSP00000492349.2:p.Leu481= | |
| ENST00000638504.1:n.1426A>G | ||
| ENST00000638568.2:c.1443A>G | ENSP00000491158.2:p.Leu481= | |
| ENST00000639899.1:n.2259A>G | ||
| ENST00000640655.2:c.1443A>G | ENSP00000491596.2:p.Leu481= | |
| ENST00000651160.1:c.1740A>G | ENSP00000498829.1:p.Leu580= | |
| ENST00000651541.1:c.1443A>G | ENSP00000498795.1:p.Leu481= | |
| ENST00000651658.1:n.2167A>G | ||
| ENST00000651723.1:c.*1823A>G | ENSP00000498237.1:n.*1823A>G | |
| ENST00000652016.1:c.1740A>G | ENSP00000498267.1:p.Leu580= | |
| ENST00000652485.1:c.1773A>G | ENSP00000498973.1:p.Leu591= | |
| ENST00000378823.7:c.1740A>G | ENSP00000368100.4:p.Leu580= | |
| ENST00000423956.5:c.1635+575A>G | ENSP00000390971.1:n.1635+575A>G | |
| ENST00000434288.1:c.235A>G | ||
| ENST00000453394.5:c.1557A>G | ENSP00000400049.1:p.Leu519= | |
| ENST00000533482.5:c.*1366A>G | ENSP00000431225.1:n.*1366A>G | |
| NM_005732.3:c.1740A>G | NP_005723.2:p.Leu580= | |
| NM_005732.4:c.1740A>G MANE Select | NP_005723.2:p.Leu580= |