Linked Data
ClinVar Variation Id:
1444178
ClinVar RCV Id:
RCV001981701
dbSNP Id:
rs34421970
gnomAD v4:
3-33018489-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.33018489G>C , CM000665.2:g.33018489G>C | GRCh38 |
| NC_000003.11:g.33059981G>C , CM000665.1:g.33059981G>C | GRCh37 |
| NC_000003.10:g.33034985G>C | NCBI36 |
| NG_009005.1:g.83714C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307363.10:c.1306C>G MANE Select | ENSP00000306920.4:p.Leu436Val | |
| ENST00000307363.9:c.1306C>G | ENSP00000306920.4:p.Leu436Val | |
| ENST00000307377.12:c.913C>G | ENSP00000305920.8:p.Leu305Val | |
| ENST00000399402.7:c.1216C>G | ENSP00000382333.2:p.Leu406Val | |
| ENST00000461475.5:n.405C>G | ||
| ENST00000467571.5:n.343C>G | ||
| ENST00000497796.5:n.558C>G | ||
| NM_000404.2:c.1306C>G | NP_000395.2:p.Leu436Val | |
| NM_000404.3:c.1306C>G | NP_000395.2:p.Leu436Val | |
| NM_001079811.1:c.1216C>G | NP_001073279.1:p.Leu406Val | |
| NM_001079811.2:c.1216C>G | NP_001073279.1:p.Leu406Val | |
| NM_001135602.1:c.913C>G | NP_001129074.1:p.Leu305Val | |
| NM_001135602.2:c.913C>G | NP_001129074.1:p.Leu305Val | |
| NM_001317040.1:c.1450C>G | NP_001303969.1:p.Leu484Val | |
| NM_000404.4:c.1306C>G MANE Select | NP_000395.3:p.Leu436Val | |
| NM_001079811.3:c.1216C>G | NP_001073279.2:p.Leu406Val | |
| NM_001135602.3:c.913C>G | NP_001129074.2:p.Leu305Val | |
| NM_001317040.2:c.1450C>G | NP_001303969.2:p.Leu484Val | |
| NM_001393580.1:c.1306C>G | NP_001380509.1:p.Leu436Val |