Linked Data
ClinVar Variation Id:
1540278
ClinVar RCV Id:
RCV002177090
dbSNP Id:
rs2149837697
gnomAD v4:
5-132579332-C-A
MyVariant Identifiers:
chr5:g.131915024C>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132579332C>A , CM000667.2:g.132579332C>A | GRCh38 |
| NC_000005.9:g.131915024C>A , CM000667.1:g.131915024C>A | GRCh37 |
| NC_000005.8:g.131942923C>A | NCBI36 |
| NG_021151.1:g.27409C>A | |
| NG_021151.2:g.27356C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378823.8:c.381C>A MANE Select | ENSP00000368100.4:p.Val127= | |
| ENST00000638452.2:c.84C>A | ENSP00000492349.2:p.Val28= | |
| ENST00000638504.1:n.442+3404C>A | ||
| ENST00000638568.2:c.84C>A | ENSP00000491158.2:p.Val28= | |
| ENST00000639899.1:n.541C>A | ||
| ENST00000640655.2:c.84C>A | ENSP00000491596.2:p.Val28= | |
| ENST00000651160.1:c.381C>A | ENSP00000498829.1:p.Val127= | |
| ENST00000651541.1:c.84C>A | ENSP00000498795.1:p.Val28= | |
| ENST00000651658.1:n.449C>A | ||
| ENST00000651723.1:c.*464C>A | ENSP00000498237.1:n.*464C>A | |
| ENST00000652016.1:c.381C>A | ENSP00000498267.1:p.Val127= | |
| ENST00000652485.1:c.381C>A | ENSP00000498973.1:p.Val127= | |
| ENST00000378823.7:c.381C>A | ENSP00000368100.4:p.Val127= | |
| ENST00000416135.5:c.84C>A | ENSP00000389515.1:p.Val28= | |
| ENST00000423956.5:c.381C>A | ENSP00000390971.1:p.Val127= | |
| ENST00000453394.5:c.381C>A | ENSP00000400049.1:p.Val127= | |
| ENST00000533482.5:c.*7C>A | ENSP00000431225.1:n.*7C>A | |
| NM_005732.3:c.381C>A | NP_005723.2:p.Val127= | |
| NM_005732.4:c.381C>A MANE Select | NP_005723.2:p.Val127= |