Linked Data
ClinVar Variation Id:
1058
ClinVar RCV Id:
RCV000001113
dbSNP Id:
rs121918205
gnomAD v4:
1-173857643-C-G
PubMed:
PMID:17384640
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.173857643C>G , CM000663.2:g.173857643C>G | GRCh38 |
| NC_000001.10:g.173826781C>G , CM000663.1:g.173826781C>G | GRCh37 |
| NC_000001.9:g.172093404C>G | NCBI36 |
| NG_016138.1:g.37985C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000471476.2:c.*1455C>G | ENSP00000497663.1:n.*1455C>G | |
| ENST00000647645.1:c.1813C>G | ENSP00000497450.1:p.Leu605Val | |
| ENST00000647730.1:c.*1566C>G | ENSP00000497781.1:n.*1566C>G | |
| ENST00000647788.1:c.*1020C>G | ENSP00000497769.1:n.*1020C>G | |
| ENST00000648271.1:c.*2342C>G | ENSP00000497795.1:n.*2342C>G | |
| ENST00000648807.1:c.1723C>G | ENSP00000497472.1:p.Leu575Val | |
| ENST00000648960.1:c.1393C>G | ENSP00000497091.1:p.Leu465Val | |
| ENST00000649067.1:c.*879C>G | ENSP00000497052.1:n.*879C>G | |
| ENST00000649689.2:c.1876C>G MANE Select | ENSP00000497569.1:p.Leu626Val | |
| ENST00000361951.4:c.1876C>G | ENSP00000355086.4:p.Leu626Val | |
| ENST00000471476.1:n.698C>G | ||
| NM_018122.4:c.1876C>G | NP_060592.2:p.Leu626Val | |
| XM_006711427.2:c.1723C>G | XP_006711490.1:p.Leu575Val | |
| NM_001365212.1:c.1723C>G | NP_001352141.1:p.Leu575Val | |
| NM_018122.5:c.1876C>G MANE Select | NP_060592.2:p.Leu626Val |