Linked Data
ClinVar Variation Id:
2451434
ClinVar RCV Id:
RCV003182450
dbSNP Id:
rs1554098317
gnomAD v4:
5-132589700-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132589700C>A , CM000667.2:g.132589700C>A | GRCh38 |
| NC_000005.9:g.131925392C>A , CM000667.1:g.131925392C>A | GRCh37 |
| NC_000005.8:g.131953291C>A | NCBI36 |
| NG_021151.1:g.37777C>A | |
| NG_021151.2:g.37724C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378823.8:c.1315C>A MANE Select | ENSP00000368100.4:p.Leu439Met | |
| ENST00000638452.2:c.1018C>A | ENSP00000492349.2:p.Leu340Met | |
| ENST00000638504.1:n.1001C>A | ||
| ENST00000638568.2:c.1018C>A | ENSP00000491158.2:p.Leu340Met | |
| ENST00000639899.1:n.1834C>A | ||
| ENST00000640655.2:c.1018C>A | ENSP00000491596.2:p.Leu340Met | |
| ENST00000651160.1:c.1315C>A | ENSP00000498829.1:p.Leu439Met | |
| ENST00000651541.1:c.1018C>A | ENSP00000498795.1:p.Leu340Met | |
| ENST00000651658.1:n.1742C>A | ||
| ENST00000651723.1:c.*1398C>A | ENSP00000498237.1:n.*1398C>A | |
| ENST00000652016.1:c.1315C>A | ENSP00000498267.1:p.Leu439Met | |
| ENST00000652485.1:c.1315C>A | ENSP00000498973.1:p.Leu439Met | |
| ENST00000378823.7:c.1315C>A | ENSP00000368100.4:p.Leu439Met | |
| ENST00000423956.5:c.1315C>A | ENSP00000390971.1:p.Leu439Met | |
| ENST00000453394.5:c.1315C>A | ENSP00000400049.1:p.Leu439Met | |
| ENST00000533482.5:c.*941C>A | ENSP00000431225.1:n.*941C>A | |
| NM_005732.3:c.1315C>A | NP_005723.2:p.Leu439Met | |
| NM_005732.4:c.1315C>A MANE Select | NP_005723.2:p.Leu439Met |