Linked Data
ClinVar Variation Id:
2306284
ClinVar RCV Id:
RCV004151161
dbSNP Id:
rs1370558330
gnomAD v2:
1-62913155-C-G
gnomAD v3:
1-62447484-C-G
gnomAD v4:
1-62447484-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.62447484C>G , CM000663.2:g.62447484C>G | GRCh38 |
| NC_000001.10:g.62913155C>G , CM000663.1:g.62913155C>G | GRCh37 |
| NC_000001.9:g.62685743C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000339950.5:c.1393C>G MANE Select | ENSP00000343526.4:p.Leu465Val | |
| ENST00000339950.4:c.1393C>G | ENSP00000343526.4:p.Leu465Val | |
| ENST00000371146.5:c.1393C>G | ENSP00000360188.1:p.Leu465Val | |
| NM_001017415.1:c.1393C>G | NP_001017415.1:p.Leu465Val | |
| NM_001017416.1:c.1393C>G | NP_001017416.1:p.Leu465Val | |
| NM_003368.4:c.1393C>G | NP_003359.3:p.Leu465Val | |
| NM_003368.5:c.1393C>G MANE Select | NP_003359.3:p.Leu465Val | |
| NM_001017415.2:c.1393C>G | NP_001017415.1:p.Leu465Val | |
| NM_001017416.2:c.1393C>G | NP_001017416.1:p.Leu465Val |