Linked Data
ClinVar Variation Id:
1146715
ClinVar RCV Id:
RCV001486010
dbSNP Id:
rs2149843650
gnomAD v4:
5-132594875-A-G
MyVariant Identifiers:
chr5:g.131930567A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132594875A>G , CM000667.2:g.132594875A>G | GRCh38 |
| NC_000005.9:g.131930567A>G , CM000667.1:g.131930567A>G | GRCh37 |
| NC_000005.8:g.131958466A>G | NCBI36 |
| NG_021151.1:g.42952A>G | |
| NG_021151.2:g.42899A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378823.8:c.1800A>G MANE Select | ENSP00000368100.4:p.Glu600= | |
| ENST00000638452.2:c.1503A>G | ENSP00000492349.2:p.Glu501= | |
| ENST00000638504.1:n.1480-229A>G | ||
| ENST00000638568.2:c.1503A>G | ENSP00000491158.2:p.Glu501= | |
| ENST00000639899.1:n.2319A>G | ||
| ENST00000640655.2:c.1503A>G | ENSP00000491596.2:p.Glu501= | |
| ENST00000651160.1:c.*16-229A>G | ENSP00000498829.1:n.*16-229A>G | |
| ENST00000651658.1:n.2343A>G | ||
| ENST00000651723.1:c.*1883A>G | ENSP00000498237.1:n.*1883A>G | |
| ENST00000652016.1:c.*88+198A>G | ENSP00000498267.1:n.*88+198A>G | |
| ENST00000652485.1:c.1833A>G | ENSP00000498973.1:p.Glu611= | |
| ENST00000378823.7:c.1800A>G | ENSP00000368100.4:p.Glu600= | |
| ENST00000423956.5:c.1642A>G | ENSP00000390971.1:p.Thr548Ala | |
| ENST00000453394.5:c.1617A>G | ENSP00000400049.1:p.Glu539= | |
| ENST00000533482.5:c.*1426A>G | ENSP00000431225.1:n.*1426A>G | |
| NM_005732.3:c.1800A>G | NP_005723.2:p.Glu600= | |
| NM_005732.4:c.1800A>G MANE Select | NP_005723.2:p.Glu600= |