Linked Data
ClinVar Variation Id:
30536
ClinVar RCV Id:
RCV000023493
dbSNP Id:
rs387906925
gnomAD v2:
16-5132616-A-G
gnomAD v3:
16-5082615-A-G
gnomAD v4:
16-5082615-A-G
PubMed:
PMID:20679665
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.5082615A>G , CM000678.2:g.5082615A>G | GRCh38 |
| NC_000016.9:g.5132616A>G , CM000678.1:g.5132616A>G | GRCh37 |
| NC_000016.8:g.5072617A>G | NCBI36 |
| NG_009202.1:g.15807A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000592793.6:n.3265A>G | ||
| ENST00000682020.1:c.535A>G | ENSP00000508075.1:p.Met179Val | |
| ENST00000682206.1:c.*224A>G | ENSP00000508285.1:n.*224A>G | |
| ENST00000682314.1:n.1177A>G | ||
| ENST00000682327.1:c.601A>G | ENSP00000507058.1:p.Met201Val | |
| ENST00000682349.1:n.3271A>G | ||
| ENST00000682703.1:n.4097A>G | ||
| ENST00000682797.1:c.*221A>G | ENSP00000507582.1:n.*221A>G | |
| ENST00000682985.1:c.640A>G | ENSP00000507598.1:p.Met214Val | |
| ENST00000683433.1:c.388A>G | ENSP00000507463.1:p.Met130Val | |
| ENST00000683685.1:n.2003A>G | ||
| ENST00000683710.1:c.*1096A>G | ENSP00000506785.1:n.*1096A>G | |
| ENST00000683739.1:c.796A>G | ENSP00000507002.1:p.Met266Val | |
| ENST00000683772.1:n.1173A>G | ||
| ENST00000684008.1:c.1067A>G | ENSP00000507962.1:n.1067A>G | |
| ENST00000684190.1:c.1090A>G | ENSP00000507554.1:p.Met364Val | |
| ENST00000684335.1:c.1018A>G | ENSP00000508112.1:p.Met340Val | |
| ENST00000262374.10:c.1129A>G MANE Select | ENSP00000262374.5:p.Met377Val | |
| ENST00000650085.1:n.1953A>G | ||
| ENST00000262374.9:c.1129A>G | ENSP00000262374.4:p.Met377Val | |
| ENST00000544428.1:c.796A>G | ENSP00000440019.1:p.Met266Val | |
| ENST00000588623.5:c.796A>G | ENSP00000468118.1:p.Met266Val | |
| ENST00000591822.5:c.*1030A>G | ENSP00000467865.1:n.*1030A>G | |
| NM_019109.4:c.1129A>G | NP_061982.3:p.Met377Val | |
| XM_011522565.1:c.796A>G | XP_011520867.1:p.Met266Val | |
| NM_001330504.1:c.796A>G | NP_001317433.1:p.Met266Val | |
| XM_017023457.2:c.1090A>G | XP_016878946.1:p.Met364Val | |
| XM_017023458.1:c.796A>G | XP_016878947.1:p.Met266Val | |
| XR_932882.3:n.1158A>G | ||
| NM_019109.5:c.1129A>G MANE Select | NP_061982.3:p.Met377Val | |
| NM_001330504.2:c.796A>G | NP_001317433.1:p.Met266Val |