Linked Data
ClinVar Variation Id:
480418
ClinVar RCV Id:
RCV000569956
dbSNP Id:
rs1277380677
gnomAD v2:
5-131930568-C-G
gnomAD v3:
5-132594876-C-G
gnomAD v4:
5-132594876-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132594876C>G , CM000667.2:g.132594876C>G | GRCh38 |
| NC_000005.9:g.131930568C>G , CM000667.1:g.131930568C>G | GRCh37 |
| NC_000005.8:g.131958467C>G | NCBI36 |
| NG_021151.1:g.42953C>G | |
| NG_021151.2:g.42900C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378823.8:c.1801C>G MANE Select | ENSP00000368100.4:p.Leu601Val | |
| ENST00000638452.2:c.1504C>G | ENSP00000492349.2:p.Leu502Val | |
| ENST00000638504.1:n.1480-228C>G | ||
| ENST00000638568.2:c.1504C>G | ENSP00000491158.2:p.Leu502Val | |
| ENST00000639899.1:n.2320C>G | ||
| ENST00000640655.2:c.1504C>G | ENSP00000491596.2:p.Leu502Val | |
| ENST00000651160.1:c.*16-228C>G | ENSP00000498829.1:n.*16-228C>G | |
| ENST00000651658.1:n.2344C>G | ||
| ENST00000651723.1:c.*1884C>G | ENSP00000498237.1:n.*1884C>G | |
| ENST00000652016.1:c.*88+199C>G | ENSP00000498267.1:n.*88+199C>G | |
| ENST00000652485.1:c.1834C>G | ENSP00000498973.1:p.Leu612Val | |
| ENST00000378823.7:c.1801C>G | ENSP00000368100.4:p.Leu601Val | |
| ENST00000423956.5:c.1643C>G | ENSP00000390971.1:p.Thr548Ser | |
| ENST00000453394.5:c.1618C>G | ENSP00000400049.1:p.Leu540Val | |
| ENST00000533482.5:c.*1427C>G | ENSP00000431225.1:n.*1427C>G | |
| NM_005732.3:c.1801C>G | NP_005723.2:p.Leu601Val | |
| NM_005732.4:c.1801C>G MANE Select | NP_005723.2:p.Leu601Val |